Mthfr (methylenetetrahydrofolate reductase) - Rat Genome Database

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Gene: Mthfr (methylenetetrahydrofolate reductase) Rattus norvegicus
Symbol: Mthfr
Name: methylenetetrahydrofolate reductase
RGD ID: 1309952
Description: Enables NADP binding activity; flavin adenine dinucleotide binding activity; and methylenetetrahydrofolate reductase (NAD(P)H) activity. Involved in several processes, including homocysteine metabolic process; response to interleukin-1; and response to vitamin. Biomarker of hyperthyroidism; hypothyroidism; and liver benign neoplasm. Human ortholog(s) of this gene implicated in several diseases, including autoimmune disease (multiple); carcinoma (multiple); cardiovascular system disease (multiple); hematologic cancer (multiple); and liver disease (multiple). Orthologous to human MTHFR (methylenetetrahydrofolate reductase); PARTICIPATES IN altered folate cycle metabolic pathway; altered folate mediated one-carbon metabolic pathway; folate cycle metabolic pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2-acetamidofluorene; 3,3',4,4',5-pentachlorobiphenyl.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 5,10-methylenetetrahydrofolate reductase; 5,10-methylenetetrahydrofolate reductase (NADPH); LOC362657; methylenetetrahydrofolate reductase (NAD(P)H); methylenetetrahydrofolate reductase (NADPH)
RGD Orthologs
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: Mthfrem1Mcwi  
Genetic Models: SS-Mthfrem1Mcwi
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Rat AssemblyChrPosition (strand)SourceGenome Browsers
GRCr85163,748,346 - 163,768,141 (+)NCBIGRCr8
mRatBN7.25158,465,248 - 158,484,999 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5158,465,296 - 158,483,797 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.05164,844,642 - 164,864,360 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5164,845,925 - 164,860,910 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05168,502,556 - 168,522,350 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45165,112,850 - 165,126,885 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15165,123,406 - 165,137,073 (+)NCBI
Celera5156,747,024 - 156,766,742 (+)NCBICelera
Cytogenetic Map5q36NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations     Click to see Annotation Detail View
abdominal aortic aneurysm  (ISO)
acute kidney failure  (ISO)
acute lymphoblastic leukemia  (ISO)
acute myeloid leukemia  (ISO)
Albuminuria  (ISO)
alcoholic liver cirrhosis  (ISO)
allergic disease  (ISO)
alopecia  (ISO)
Alzheimer's disease  (ISO)
amyotrophic lateral sclerosis  (ISO)
anemia  (ISO)
angle-closure glaucoma  (ISO)
ankylosing spondylitis  (ISO)
Aortic Coarctation  (ISO)
aphthous stomatitis  (ISO)
Arsenic Poisoning  (ISO)
Arterial Occlusive Diseases  (ISO)
asthma  (ISO)
atherosclerosis  (ISO)
attention deficit hyperactivity disorder  (ISO)
autism spectrum disorder  (ISO)
autistic disorder  (ISO)
B-Cell Chronic Lymphocytic Leukemia  (ISO)
Banti's Syndrome  (ISO)
bipolar disorder  (ISO)
brain ischemia  (ISO)
Breast Neoplasms  (ISO)
Budd-Chiari syndrome  (ISO)
cardia cancer  (ISO)
cardiovascular system disease  (ISO)
carotid stenosis  (ISO)
cataract  (ISO)
cerebral infarction  (ISO)
cervical cancer  (ISO)
cervix uteri carcinoma in situ  (ISO)
Charcot-Marie-Tooth disease type 2  (ISO)
Chemical and Drug Induced Liver Injury  (ISO)
cholangiocarcinoma  (ISO)
chromosome 1p36 deletion syndrome  (ISO)
chronic kidney disease  (ISO)
chronic myeloid leukemia  (ISO)
clear cell renal cell carcinoma  (ISO)
cleft lip  (ISO)
clubfoot  (ISO)
Cognitive Dysfunction  (ISO)
Colonic Neoplasms  (ISO)
Colorectal Neoplasms  (ISO)
congenital heart disease  (ISO)
Conotruncal Cardiac Defects  (ISO)
coronary artery disease  (ISO)
Coronary Disease  (ISO)
coronary restenosis  (ISO)
Crohn's disease  (ISO)
Cytomegalovirus Infections  (ISO)
depressive disorder  (ISO)
Developmental Disabilities  (ISO)
dextro-looped transposition of the great arteries  (ISO)
diabetes mellitus  (ISO)
diabetic angiopathy  (ISO)
Diabetic Nephropathies  (ISO)
diabetic retinopathy  (ISO)
diffuse large B-cell lymphoma  (ISO)
Down syndrome  (ISO)
Drug Eruptions  (ISO)
Drug-Related Side Effects and Adverse Reactions  (ISO)
Ehlers-Danlos syndrome kyphoscoliotic type 1  (ISO)
end stage renal disease  (ISO)
Endometrial Neoplasms  (ISO)
epilepsy with generalized tonic-clonic seizures  (ISO)
Experimental Diabetes Mellitus  (IEP)
eye disease  (ISO)
factor VIII deficiency  (ISO)
Familial Atrial Fibrillation 6  (ISO)
familial mediterranean fever  (ISO)
Female Infertility  (ISO)
Folate-Sensitive Neural Tube Defects  (ISO)
follicular lymphoma  (ISO)
gastrointestinal stromal tumor  (ISO)
gastrointestinal system disease  (ISO)
genetic disease  (ISO)
glomerulonephritis  (ISO)
graft-versus-host disease  (ISO)
Graves' disease  (ISO)
Habitual Abortions  (ISO)
Hearing Loss  (ISO)
Helicobacter Infections  (ISO)
Hematologic Neoplasms  (ISO)
hematopoietic system disease  (ISO)
hepatic veno-occlusive disease  (ISO)
hepatitis B  (ISO)
hepatocellular carcinoma  (ISO)
hyperhomocysteinemia  (ISO)
hyperthyroidism  (IEP)
hypopituitarism  (ISO)
hypothyroidism  (IEP)
inflammatory bowel disease  (ISO)
Inherited Blood Coagulation Disease  (ISO)
intellectual disability  (ISO)
intracranial sinus thrombosis  (ISO)
ischemia  (ISO)
kidney disease  (ISO)
kidney failure  (ISO)
Kuhnt-Junius degeneration  (ISO)
Left Ventricular Hypertrophy  (ISO)
Leukoencephalopathies  (ISO)
leukopenia  (ISO)
liver benign neoplasm  (IEP)
liver cirrhosis  (ISO)
liver disease  (ISO)
Lung Neoplasms  (ISO)
lung small cell carcinoma  (ISO)
lymphoma  (ISO)
male infertility  (ISO)
Malnutrition  (ISO)
Maxillofacial Abnormalities  (ISO)
Meniere's disease  (ISO)
metabolic dysfunction-associated steatotic liver disease  (ISO)
Methylenetetrahydrofolate Reductase Deficiency  (ISO)
Microsatellite Instability  (ISO)
Microvascular Angina  (ISO)
migraine  (ISO)
migraine with aura  (ISO)
mitral valve disease  (ISO)
Mthfr Deficiency, Thermolabile Type  (ISO)
mucositis  (ISO)
multiple myeloma  (ISO)
myeloid neoplasm  (ISO)
myelomeningocele  (ISO)
myocardial infarction  (ISO)
Necrosis  (ISO)
Neoplasm Metastasis  (ISO)
nephroblastoma  (ISO)
nephrosclerosis  (ISO)
nervous system disease  (ISO)
neural tube defect  (ISO,ISS)
neutropenia  (ISO)
non-arteritic anterior ischemic optic neuropathy  (ISO)
non-Hodgkin lymphoma  (ISO)
open-angle glaucoma  (ISO)
oral squamous cell carcinoma  (ISO)
osteonecrosis  (ISO)
osteosarcoma  (ISO)
pancreatic cancer  (ISO)
papillomavirus infectious disease  (ISO)
Parkinson's disease  (ISO)
peripheral artery disease  (ISO)
portal vein thrombosis  (ISO)
Prenatal Exposure Delayed Effects  (IEP)
prostate cancer  (ISO)
Prostatic Neoplasms  (ISO)
pulmonary embolism  (ISO)
rectal benign neoplasm  (ISO)
renal artery disease  (ISO)
renal cell carcinoma  (ISO)
retinal disease  (ISO)
retinal vein occlusion  (ISO)
rheumatoid arthritis  (ISO)
schizophrenia  (ISO)
sickle cell anemia  (ISO)
skin disease  (ISO)
smallpox  (ISO)
spina bifida  (ISO)
spinal cord disease  (ISO)
sporadic breast cancer  (ISO)
squamous cell carcinoma  (ISO)
steatotic liver disease  (ISO)
stomach cancer  (ISO)
Stomach Neoplasms  (ISO)
Stroke  (ISO)
Sudden Hearing Loss  (ISO)
tetralogy of Fallot  (ISO)
thrombocytopenia  (ISO)
thrombophilia  (ISO)
thrombophilia due to thrombin defect  (ISO)
thrombosis  (ISO)
Thrombotic Microangiopathies  (ISO)
thyrotoxicosis  (ISO)
transitional cell carcinoma  (ISO)
type 1 diabetes mellitus  (ISO)
type 2 diabetes mellitus  (ISO)
urinary bladder cancer  (ISO)
Uterine Cervical Neoplasms  (ISO)
Vascular Calcification  (ISO)
vascular dementia  (ISO)
vascular disease  (ISO)
Venous Thromboembolism  (ISO)
Venous Thrombosis  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-acetamidofluorene  (EXP)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3-chloropropane-1,2-diol  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5,10-methylenetetrahydrofolic acid  (ISO)
5-fluorouracil  (ISO)
5-formyltetrahydrofolic acid  (ISO)
5-methyltetrahydrofolic acid  (ISO)
6-propyl-2-thiouracil  (EXP)
7-Hydroxymethotrexate  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (ISO)
amitrole  (EXP)
ammonium chloride  (EXP)
ancitabine  (ISO)
antirheumatic drug  (ISO)
aristolochic acid A  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
benazepril  (ISO)
benzo[a]pyrene  (ISO)
benzo[b]fluoranthene  (ISO)
bifenthrin  (ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (EXP)
butanal  (ISO)
calcitriol  (ISO)
carbon nanotube  (ISO)
choline  (ISO)
clozapine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
crocidolite asbestos  (ISO)
cyanocob(III)alamin  (EXP)
cyproconazole  (EXP)
cytarabine  (ISO)
dibenz[a,h]anthracene  (ISO)
epoxiconazole  (EXP)
fentin chloride  (EXP)
floxuridine  (ISO)
folic acid  (EXP,ISO)
gallic acid  (ISO)
gentamycin  (EXP)
gold atom  (ISO)
gold(0)  (ISO)
GW 4064  (ISO)
homocysteine  (ISO)
indole-3-methanol  (EXP)
inulin  (ISO)
iron dichloride  (ISO)
L-methionine  (ISO)
maneb  (ISO)
methimazole  (EXP)
methotrexate  (EXP,ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodiethylamine  (EXP,ISO)
nickel atom  (ISO)
olanzapine  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
parathion  (ISO)
PCB138  (ISO)
pentanal  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylhydrazine  (EXP)
pirinixic acid  (ISO)
propiconazole  (EXP)
raloxifene  (ISO)
riboflavin  (ISO)
ritodrine  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
streptozocin  (ISO)
sulfasalazine  (ISO)
sunitinib  (ISO)
tamoxifen  (ISO)
testosterone  (ISO)
tetrachloromethane  (EXP,ISO)
tetrahydrocurcumin  (ISO)
triadimefon  (EXP)
tributylstannane  (ISO)
trichloroethene  (EXP)
troglitazone  (ISO)
valproic acid  (ISO)
vigabatrin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytosol  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype

References - curated
# Reference Title Reference Citation
1. Hyperhomocysteinemia and the MTHFR C677T polymorphism promote steatosis and fibrosis in chronic hepatitis C patients. Adinolfi LE, etal., Hepatology. 2005 May;41(5):995-1003.
2. Frequency of the MTHFR C677T polymorphism in Yemeni children with sickle cell disease. Al-Saqladi AW, etal., Hemoglobin. 2010;34(1):67-77. doi: 10.3109/09687630903554111.
3. Endothelial cell dysfunction in women with cardiac syndrome X and MTHFR C677T mutation. Alroy S, etal., Isr Med Assoc J. 2007 Apr;9(4):321-5.
4. Analysis of polymorphism in renin angiotensin system and other related genes in South Indian chronic kidney disease patients. Anbazhagan K, etal., Clin Chim Acta. 2009 Aug;406(1-2):108-12. Epub 2009 Jun 9.
5. The effect of riboflavin deficiency on methylenetetrahydrofolate reductase (NADPH) (EC and folate metabolism in the rat. Bates CJ and Fuller NJ, Br J Nutr. 1986 Mar;55(2):455-64.
6. Analysis of inherited thrombophilic mutations and natural anticoagulant deficiency in patients with idiopathic portal hypertension. Bayan K, etal., J Thromb Thrombolysis. 2009 Jul;28(1):57-62. doi: 10.1007/s11239-008-0244-8. Epub 2008 Aug 7.
7. Hyperhomocysteinemia and hypercoagulability in primary biliary cirrhosis. Biagini MR, etal., World J Gastroenterol. 2006 Mar 14;12(10):1607-12.
8. Mild neonatal hypoxia exacerbates the effects of vitamin-deficient diet on homocysteine metabolism in rats. Blaise S, etal., Pediatr Res 2005 Jun;57(6):777-82. Epub 2005 Apr 21.
9. Overview of homocysteine and folate metabolism. With special references to cardiovascular disease and neural tube defects. Blom HJ and Smulders Y, J Inherit Metab Dis. 2011 Feb;34(1):75-81. doi: 10.1007/s10545-010-9177-4. Epub 2010 Sep 4.
10. Methylenetetrahydrofolate reductase (MTHFR) polymorphisms and promoter methylation in cervical oncogenic lesions and cancer. Botezatu A, etal., J Cell Mol Med. 2013 Apr;17(4):543-9. doi: 10.1111/jcmm.12032. Epub 2013 Feb 28.
11. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Botto LD and Yang Q, Am J Epidemiol. 2000 May 1;151(9):862-77.
12. Methylenetetrahydrofolate reductase 677 T allele protects against persistent HBV infection in West Africa. Bronowicki JP, etal., J Hepatol. 2008 Apr;48(4):532-9. doi: 10.1016/j.jhep.2007.11.017. Epub 2008 Jan 2.
13. Methylenetetrahydrofolate reductase in the rat central nervous system: intracellular and regional distribution. Burton EG and Sallach HJ, Arch Biochem Biophys. 1975 Feb;166(2):483-94.
14. Lack of association between inherited thrombophilic risk factors and idiopathic sudden sensorineural hearing loss in Italian patients. Cadoni G, etal., Ann Otol Rhinol Laryngol. 2006 Mar;115(3):195-200.
15. Genetic polymorphisms of MTHFR and aberrant promoter hypermethylation of the RASSF1A gene in bladder cancer risk in a Chinese population. Cai DW, etal., J Int Med Res. 2009 Nov-Dec;37(6):1882-9.
16. Sudden hearing loss and MTHFR 677C>T/1298A>C gene polymorphisms. Capaccio P, etal., Genet Med. 2005 Mar;7(3):206-8.
17. Effect of chronic phenobarbital treatment on folates and one-carbon enzymes in the rat. Carl GF and Smith DB, Biochem Pharmacol. 1984 Nov 1;33(21):3457-63.
18. The effect of chronic phenytoin treatment on tissue folate concentrations and on the activities of the methyl synthetic enzymes in the rat. Carl GF and Smith DB, J Nutr. 1983 Nov;113(11):2368-74.
19. Effect of chronic valproate treatment on folate-dependent methyl biosynthesis in the rat. Carl GF Neurochem Res. 1986 May;11(5):671-85.
20. Effect of chronic primidone treatment on folate-dependent one-carbon metabolism in the rat. Carl GF, etal., Biochem Pharmacol. 1987 Jul 1;36(13):2139-44.
21. Effect of methionine-loading on methyl group synthesis and activation in rat brain and liver. Carl GF, etal., Biol Psychiatry. 1978 Dec;13(6):661-9.
22. The MTHFR C677T polymorphism is associated with mitral valve rheumatic heart disease. Carlus SJ, etal., Eur Rev Med Pharmacol Sci. 2016;20(1):109-14.
23. Homocysteine and stroke: evidence on a causal link from mendelian randomisation. Casas JP, etal., Lancet. 2005 Jan 15-21;365(9455):224-32.
24. Non-alcoholic fatty liver disease (NAFLD) and MTHFR 1298A > C gene polymorphism. Catalano D, etal., Eur Rev Med Pharmacol Sci. 2014;18(2):151-9.
25. Cloning and expression of 5, 10-Methylenetetrahydrofolate reductase (MTHFR) gene. Chen G, etal., Sci China C Life Sci. 1998 Dec;41(6):636-43.
26. Impact of methylenetetrahydrofolate reductase polymorphisms and folate intake on the risk of gastric cancer and their association with Helicobacter pylori infection and tumor site. Chen J, etal., Genet Mol Res. 2014 Jan 24;13(4):9718-26. doi: 10.4238/2014.January.24.2.
27. The anti-folate effect of methionine on bone marrow of normal and vitamin B12 deficient rats. Cheng FW, etal., Br J Haematol. 1975 Nov;31(3):323-36.
28. The role of MTHFR and RFC1 polymorphisms on toxicity and outcome of adult patients with hematological malignancies treated with high-dose methotrexate followed by leucovorin rescue. Chiusolo P, etal., Cancer Chemother Pharmacol. 2012 Mar;69(3):691-6. doi: 10.1007/s00280-011-1751-4. Epub 2011 Oct 9.
29. MTHFR Gene variants C677T, A1298C and association with Down syndrome: A Case-control study from South India. Cyril C, etal., Indian J Hum Genet. 2009 May;15(2):60-4. doi: 10.4103/0971-6866.55217.
30. Thrombophilic genetic factors PAI-1 4G-4G and MTHFR 677TT as risk factors of alcohol, cryptogenic liver cirrhosis and portal vein thrombosis, in a Caucasian population. D'Amico M, etal., Gene. 2015 Aug 15;568(1):85-8. doi: 10.1016/j.gene.2015.05.034. Epub 2015 May 16.
31. The role of vitamin B12 in fasting hyperhomocysteinemia and its interaction with the homozygous C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene. A case-control study of patients with early-onset thrombotic events. D'Angelo A, etal., Thromb Haemost. 2000 Apr;83(4):563-70.
32. Cigarette smoke increases intimal hyperplasia and homocysteine in a rat carotid endarterectomy. Davis JA, etal., J Surg Res. 2004 Sep;121(1):69-75.
33. MTHFR C677T/A1298C genotype: a possible risk factor for liver sinusoidal obstruction syndrome. Efrati E, etal., Bone Marrow Transplant. 2014 May;49(5):726-7. doi: 10.1038/bmt.2014.16. Epub 2014 Mar 3.
34. Association of factor V Leiden, Janus kinase 2, prothrombin, and MTHFR mutations with primary Budd-Chiari syndrome in Egyptian patients. El Sebay HM, etal., J Gastroenterol Hepatol. 2016 Jan;31(1):235-40. doi: 10.1111/jgh.13066.
35. MTHFR C677T, A1298C and ACE I/D polymorphisms as risk factors for diabetic nephropathy among type 2 diabetic patients. El-Baz R, etal., J Renin Angiotensin Aldosterone Syst. 2012 May 3.
36. Study of the pharmacokinetic and pharmacogenetic contribution to the toxicity of high-dose methotrexate in children with acute lymphoblastic leukemia. El-Khodary NM, etal., Med Oncol. 2012 Sep;29(3):2053-62. doi: 10.1007/s12032-011-9997-6. Epub 2011 Jun 5.
37. Methylenetetrahydrofolate reductase gene polymorphisms in Turkish children with attention-deficit/hyperactivity disorder. Ergul E, etal., Genet Test Mol Biomarkers. 2012 Jan;16(1):67-9. doi: 10.1089/gtmb.2011.0062. Epub 2011 Aug 5.
38. Neural tube defects, vitamins and homocysteine. Eskes TK Eur J Pediatr 1998 Apr;157 Suppl 2:S139-41.
39. Thrombophilic risk factors in the pathogenesis of non-arteritic anterior ischemic optic neuropathy patients. Felekis T, etal., Graefes Arch Clin Exp Ophthalmol. 2010 Jun;248(6):877-84. doi: 10.1007/s00417-010-1308-y. Epub 2010 Feb 17.
40. Impact of the MTHFR C677T polymorphism on risk of Wilms tumor: case-control study. Ferrara M, etal., J Pediatr Hematol Oncol. 2009 Apr;31(4):256-8.
41. Identifying multiple causative genes at a single GWAS locus. Flister MJ, etal., Genome Res. 2013 Dec;23(12):1996-2002. doi: 10.1101/gr.160283.113. Epub 2013 Sep 4.
42. Methylenetetrahydrofolate reductase (MTHFR) deficiency enhances resistance against cytomegalovirus infection. Fodil-Cornu N, etal., Genes Immun. 2009 Oct;10(7):662-6. doi: 10.1038/gene.2009.50. Epub 2009 Jul 16.
43. Comprehensive analysis of Methylenetetrahydrofolate reductase C677T in younger acute lymphoblastic leukemia patients: A single-center experience. Frikha R, etal., J Oncol Pharm Pract. 2019 Jul;25(5):1182-1186. doi: 10.1177/1078155218818244. Epub 2018 Dec 14.
44. Methylenetetrahydrofolate reductase (MTHFR) polymorphism A1298C (Glu429Ala) predicts decline in renal function over time in the African-American Study of Kidney Disease and Hypertension (AASK) Trial and Veterans Affairs Hypertension Cohort (VAHC). Fung MM, etal., Nephrol Dial Transplant. 2012 Jan;27(1):197-205. Epub 2011 May 25.
45. Role of genetic and acquired prothrombotic risk factors in genesis of sudden sensorineural hearing loss. Fusconi M, etal., Audiol Neurootol. 2011;16(3):185-90. doi: 10.1159/000319310. Epub 2010 Aug 25.
46. The G1691 --> A mutation of factor V, but not the G20210 --> A mutation of factor II or the C677 --> T mutation of methylenetetrahydrofolate reductase genes, is associated with venous thrombosis in patients with lupus anticoagulants. Galli M, etal., Br J Haematol. 2000 Mar;108(4):865-70.
47. MTHFR C677T mutation in central retinal vein occlusion: a case-control study in Chinese population. Gao W, etal., Thromb Res. 2008;121(5):699-703. Epub 2007 Aug 23.
48. Identification of a biomarker profile associated with resistance to neoadjuvant chemoradiation therapy in rectal cancer. Garcia-Aguilar J, etal., Ann Surg. 2011 Sep;254(3):486-92; discussion 492-3.
49. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
50. C677T substitution in the methylenetetrahydrofolate reductase gene as a risk factor for venous thrombosis and arterial disease in selected patients. Gemmati D, etal., Haematologica. 1999 Sep;84(9):824-8.
51. Rat ISS GO annotations from GOA human gene data--August 2006 GOA data from the GO Consortium
52. Renal vascular sclerosis is associated with inherited thrombophilias. Goforth RL, etal., Kidney Int. 2006 Aug;70(4):743-50. Epub 2006 Jun 7.
53. Analysis of thrombophilic genetic mutations in patients with Sheehan's syndrome: is thrombophilia responsible for the pathogenesis of Sheehan's syndrome? Gokalp D, etal., Pituitary. 2011 Jun;14(2):168-73. doi: 10.1007/s11102-010-0276-x.
54. Methylenetetrahydrofolate reductase gene polymorphisms in children with attention deficit hyperactivity disorder. Gokcen C, etal., Int J Med Sci. 2011;8(7):523-8. Epub 2011 Aug 30.
55. Methylenetetrahydrofolate reductase C677T and reduced folate carrier 80 G>A polymorphisms are associated with an increased risk of conotruncal heart defects. Gong D, etal., Clin Chem Lab Med. 2012 Feb 4;50(8):1455-61. doi: 10.1515/cclm-2011-0759.
56. MTHFR polymorphic variant C677T is associated to vascular complications in sickle-cell disease. Hatzlhofer BL, etal., Genet Test Mol Biomarkers. 2012 Sep;16(9):1038-43. doi: 10.1089/gtmb.2011.0361. Epub 2012 Aug 27.
57. The common mutations C677T and A1298C in the human methylenetetrahydrofolate reductase gene are associated with hyperhomocysteinemia and cardiovascular disease in hemodialysis patients. Haviv YS, etal., Nephron. 2002 Sep;92(1):120-6.
58. MTHFR, MTR and MTRR polymorphisms and risk of chronic kidney disease in Japanese: cross-sectional data from the J-MICC Study. Hishida A, etal., Int Urol Nephrol. 2013 Apr 18.
59. The importance of homozygous polymorphisms of methylenetetrahydrofolate reductase gene in romanian patients with idiopathic venous thromboembolism. Hotoleanu C, etal., Balkan Med J. 2013 Jun;30(2):197-203. doi: 10.5152/balkanmedj.2013.7159. Epub 2013 Jun 1.
60. Assays of methylenetetrahydrofolate reductase and methionine synthase activities by monitoring 5-methyltetrahydrofolate and tetrahydrofolate using high-performance liquid chromatography with fluorescence detection. Huang L, etal., Anal Biochem. 2001 Dec 15;299(2):253-9.
61. Association between polymorphisms in genes encoding methylenetetrahydrofolate reductase and the risk of Meniere's disease. Huang Y, etal., J Neurogenet. 2013 Jun;27(1-2):5-10. doi: 10.3109/01677063.2013.770510. Epub 2013 Mar 13.
62. Plasminogen activator inhibitor 1 and methylenetetrahydrofolate reductase gene mutations in iranian women with polycystic ovary syndrome. Idali F, etal., Am J Reprod Immunol. 2012 Nov;68(5):400-7. doi: 10.1111/aji.12002. Epub 2012 Aug 6.
63. IL-4 and MTHFR gene polymorphism in rheumatoid arthritis and their effects. Inanir A, etal., Immunol Lett. 2013 May;152(2):104-8. doi: 10.1016/j.imlet.2013.05.004. Epub 2013 May 15.
64. Synergistic effects of prothrombotic polymorphisms and atherogenic factors on the risk of myocardial infarction in young males. Inbal A, etal., Blood. 1999 Apr 1;93(7):2186-90.
65. MTHFR gene polymorphisms in bladder cancer in the Turkish population. Izmirli M, etal., Asian Pac J Cancer Prev. 2011;12(7):1833-5.
66. Effects of streptozotocin-induced diabetes and of insulin treatment on homocysteine metabolism in the rat. Jacobs RL, etal., Diabetes. 1998 Dec;47(12):1967-70.
67. Effect of the MTHFR C677T and A1298C polymorphisms on survival in patients with advanced CKD and ESRD: a prospective study. Jamison RL, etal., Am J Kidney Dis. 2009 May;53(5):779-89. Epub 2009 Mar 9.
68. The relationship between methylenetetrahydrofolate reductase polymorphism and hematological malignancy. Jiang N, etal., Clin Lab. 2014;60(5):767-74.
69. C677T variant in the methylentetrahydrofolate reductase gene is a genetic risk factor for primary open-angle glaucoma. Junemann AG, etal., Am J Ophthalmol. 2005 Apr;139(4):721-3.
70. Genetic risk factors for thrombosis in systemic lupus erythematosus. Kaiser R, etal., J Rheumatol. 2012 Aug;39(8):1603-10. Epub 2012 Jun 15.
71. Association of MTHFR gene C677T mutation with recurrent aphthous stomatitis and number of oral ulcers. Kalkan G, etal., Clin Oral Investig. 2014;18(2):437-41. doi: 10.1007/s00784-013-0997-0. Epub 2013 May 11.
72. Possible Association Between the Methylenetetrahydrofolate Reductase Gene C677T Polymorphism and Preexisting Portal Vein Thrombosis in Liver Transplant Recipients. Kamei H, etal., Exp Clin Transplant. 2016 Jun;14(3):313-6.
73. Methylenetetrahydrofolate Reductase gene polymorphism in patients receiving hemodialysis. Kiseljakovic E, etal., Bosn J Basic Med Sci. 2010 Apr;10 Suppl 1:S91-5.
74. MTHFR 677C-->T polymorphism and risk of coronary heart disease: a meta-analysis. Klerk M, etal., JAMA. 2002 Oct 23-30;288(16):2023-31.
75. Polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) and thymidylate synthase enhancer region (TSER) as a risk factor of cholangiocarcinoma in a Korean population. Ko KH, etal., Anticancer Res. 2006 Nov-Dec;26(6B):4229-33.
76. Role of epigenetic and miR-22 and miR-29b alterations in the downregulation of Mat1a and Mthfr genes in early preneoplastic livers in rats induced by 2-acetylaminofluorene. Koturbash I, etal., Mol Carcinog. 2011 Dec 27. doi: 10.1002/mc.21861.
77. The C677T methylenetetrahydrofolate reductase gene mutation and nephropathy in type 2 diabetes mellitus. Ksiazek P, etal., Med Sci Monit. 2004 Feb;10(2):BR47-51.
78. Association of congenital cardiovascular malformations with 33 single nucleotide polymorphisms of selected cardiovascular disease-related genes. Kuehl K, etal., Birth Defects Res A Clin Mol Teratol. 2010 Feb;88(2):101-10.
79. The thermolabile variant of 5,10-methylenetetrahydrofolate reductase is a possible risk factor for amyotrophic lateral sclerosis. Kuhnlein P, etal., Amyotroph Lateral Scler. 2011 Mar;12(2):136-9. doi: 10.3109/17482968.2010.536985. Epub 2010 Dec 6.
80. Interrelationships among genetic C677T polymorphism of 5,10-methylenetetrahydrofolate reductase, biochemical folate status, and lymphocytic p53 oxidative damage in association with tumor malignancy and survivals of patients with hepatocellular carcinoma. Kuo CS, etal., Mol Nutr Food Res. 2014 Feb;58(2):329-42. doi: 10.1002/mnfr.201200479. Epub 2013 Aug 29.
81. Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) gene polymorphisms as risk factors for hepatocellular carcinoma in a Korean population. Kwak SY, etal., Anticancer Res. 2008 Sep-Oct;28(5A):2807-11.
82. Association of methylenetetrahydrofolate reductase polymorphism and the risk of squamous cell carcinoma in renal transplant patients. Laing ME, etal., Transplantation. 2007 Jul 15;84(1):113-6.
83. Complete deficiency of methylenetetrahydrofolate reductase in mice is associated with impaired retinal function and variable mortality, hematological profiles, and reproductive outcomes. Lawrance AK, etal., J Inherit Metab Dis. 2011 Feb;34(1):147-57. doi: 10.1007/s10545-010-9127-1. Epub 2010 Jun 8.
84. MTHFR C677T polymorphism as a risk factor for vascular calcification in chronic hemodialysis patients. Lee SY, etal., J Korean Med Sci. 2011 Mar;26(3):461-5. Epub 2011 Feb 25.
85. Hyperhomocysteinemia and the MTHFR C677T mutation in Budd-Chiari syndrome. Li XM, etal., Am J Hematol. 2002 Sep;71(1):11-4.
86. A common haplotype for the 677T thermolabile variant of the 5,10-methylenetetrahydrofolate reductase gene in thrombophilic patients and controls. Linnebank M, etal., Hum Mutat. 2002 Dec;20(6):478.
87. Retinal vein occlusion associated with methylenetetrahydrofolate reductase mutation. Loewenstein A, etal., Ophthalmology. 1999 Sep;106(9):1817-20.
88. MTHFR gene polymorphism is susceptible to diabetic retinopathy but not to diabetic nephropathy in Japanese type 2 diabetic patients. Maeda M, etal., J Diabetes Complications. 2008 Mar-Apr;22(2):119-25.
89. Association study between methylenetetrahydrofolate reductase gene polymorphisms and Graves' disease. Mao R, etal., Cell Biochem Funct. 2010 Oct;28(7):585-90. doi: 10.1002/cbf.1694.
90. Thrombophilic risk factors in patients with severe carotid atherosclerosis. Marcucci R, etal., J Thromb Haemost. 2005 Mar;3(3):502-7.
91. Prognostic significance of folate metabolism polymorphisms for lung cancer. Matakidou A, etal., Br J Cancer. 2007 Jul 16;97(2):247-52. Epub 2007 May 29.
92. Methylenetetrahydrofolate reductase: a common human polymorphism and its biochemical implications. Matthews RG Chem Rec 2002;2(1):4-12.
93. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
94. MTHFR gene C677T and A1298C polymorphisms and homocysteine levels in primary open angle and primary closed angle glaucoma. Micheal S, etal., Mol Vis. 2009 Nov 9;15:2268-78.
95. MTHFR 677CC/1298CC genotypes are highly associated with chronic myelogenous leukemia: a case-control study in Korea. Moon HW, etal., Leuk Res. 2007 Sep;31(9):1213-7. Epub 2006 Dec 6.
96. Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancer. Moore LE, etal., Int J Cancer. 2007 Jun 1;120(11):2452-8.
97. Folate metabolism genes, vegetable intake and renal cancer risk in central Europe. Moore LE, etal., Int J Cancer. 2008 Apr 15;122(8):1710-5.
98. Association of methylene tetrahydrofolate reductase C677T genotype with type 2 diabetes mellitus patients with and without renal complications. Movva S, etal., Genet Test Mol Biomarkers. 2011 Apr;15(4):257-61. Epub 2010 Dec 27.
99. MTHFR C677T and A1298C gene polymorphisms and hyperhomocysteinemia as risk factors of diabetic nephropathy in type 2 diabetes patients. Mtiraoui N, etal., Diabetes Res Clin Pract. 2007 Jan;75(1):99-106. Epub 2006 Jul 7.
100. Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and the risk of primary hepatocellular carcinoma (HCC) in a Chinese population. Mu LN, etal., Cancer Causes Control. 2007 Aug;18(6):665-75. doi: 10.1007/s10552-007-9012-x. Epub 2007 May 15.
101. Homocysteine, methylenetetrahydrofolate reductase and risk of schizophrenia: a meta-analysis. Muntjewerff JW, etal., Mol Psychiatry. 2006 Feb;11(2):143-9.
102. Folate-mediated incorporation of ring-2-carbon of histidine into nucleic acids: influence of thyroid hormone. Nair CP, etal., Metabolism. 1994 Dec;43(12):1575-8.
103. Defective homocysteine metabolism as a risk factor for diabetic retinopathy. Neugebauer S, etal., Lancet. 1997 Feb 15;349(9050):473-4.
104. MTHFR C677T polymorphism and differential methylation status in gastric cancer: an association with Helicobacter pylori infection. Neves Filho EH, etal., Virchows Arch. 2010 Dec;457(6):627-33. doi: 10.1007/s00428-010-0996-3. Epub 2010 Oct 19.
105. Prenatal alcohol exposure alters methyl metabolism and programs serotonin transporter and glucocorticoid receptor expression in brain. Ngai YF, etal., Am J Physiol Regul Integr Comp Physiol. 2015 Sep;309(5):R613-22. doi: 10.1152/ajpregu.00075.2015. Epub 2015 Jul 15.
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107. MTHFR gene C677T and A1298C variants are associated with FMF risk in a Turkish cohort. Nursal AF, etal., J Clin Lab Anal. 2018 Feb;32(2). doi: 10.1002/jcla.22259. Epub 2017 May 22.
108. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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110. Recurrent pregnancy loss and its relation to combined parental thrombophilic gene mutations. Ozdemir O, etal., Genet Test Mol Biomarkers. 2012 Apr;16(4):279-86. doi: 10.1089/gtmb.2011.0191. Epub 2011 Nov 2.
111. 5,10-Methylenetetrahydrofolate reductase C677T gene polymorphism in Behcet's patients with or without ocular involvement. Ozkul Y, etal., Br J Ophthalmol. 2005 Dec;89(12):1634-7.
112. MTHFR C677T polymorphism associates with unexplained infertile male factors. Park JH, etal., J Assist Reprod Genet. 2005 Oct;22(9-10):361-8.
113. Methotrexate in pediatric osteosarcoma: response and toxicity in relation to genetic polymorphisms and dihydrofolate reductase and reduced folate carrier 1 expression. Patino-Garcia A, etal., J Pediatr. 2009 May;154(5):688-93. Epub 2009 Jan 21.
114. Low vitamin B6, and not plasma homocysteine concentration, as risk factor for abdominal aortic aneurysm: a retrospective case-control study. Peeters AC, etal., J Vasc Surg. 2007 Apr;45(4):701-5.
115. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
116. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
117. MTHFR A1298C polymorphism is associated with cardiovascular risk in end stage renal disease in North Indians. Poduri A, etal., Mol Cell Biochem. 2008 Jan;308(1-2):43-50. Epub 2007 Sep 25.
118. Methylenetetrahydrofolate reductase polymorphism 677C>T is associated with peripheral arterial disease in type 2 diabetes. Pollex RL, etal., Cardiovasc Diabetol. 2005 Nov 7;4:17.
119. MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers. Rai AK, etal., J Hum Genet. 2006;51(4):278-83. Epub 2006 Feb 18.
120. MTHFR c.677C>T is a risk factor for non-syndromic cleft lip with or without cleft palate in Chile. Ramirez-Chau C, etal., Oral Dis. 2016 Oct;22(7):703-8. doi: 10.1111/odi.12533. Epub 2016 Aug 1.
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122. Can MTHFR C677T and A1298C Polymorphisms Alter the Risk and Severity of Sporadic Breast Cancer in Brazilian Women? Rezende LM, etal., Clin Breast Cancer. 2017 Jul;17(4):e199-e208. doi: 10.1016/j.clbc.2017.02.004. Epub 2017 Feb 16.
123. GOA pipeline RGD automated data pipeline
124. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
125. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
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128. Polymorphisms in one-carbon metabolism pathway genes and risk for bladder cancer in a Tunisian population. Rouissi K, etal., Cancer Genet Cytogenet. 2009 Nov;195(1):43-53.
129. Impact of methylenetetrahydrofolate reductase C677T polymorphism on the risk of gastric cancer and its interaction with Helicobacter pylori infection. Saberi S, etal., Iran Biomed J. 2012;16(4):179-84. doi: 10.6091/ibj.1102.2012.
130. Methylenetetrahydrofolate reductase (MTHFR) gene C677T, A1298C and G1793A polymorphisms: association with risk for clear cell renal cell carcinoma and tumour behaviour in men. Safarinejad MR, etal., Clin Oncol (R Coll Radiol). 2012 May;24(4):269-81. doi: 10.1016/j.clon.2011.03.005. Epub 2011 Apr 13.
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135. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. Sibani S, etal., Hum Mutat. 2000;15(3):280-7.
136. Genetic polymorphisms of methylenetetrahydrofolate reductase and promoter methylation of MGMT and FHIT genes in diffuse large B cell lymphoma risk in Middle East. Siraj AK, etal., Ann Hematol. 2007 Dec;86(12):887-95. Epub 2007 Aug 22.
137. Plasma total homocysteine levels and methylenetetrahydrofolate reductase gene polymorphism in patients with type 2 diabetes mellitus. Soares AL, etal., Pathophysiol Haemost Thromb. 2008;36(5):275-81. Epub 2009 Dec 9.
138. Methylenetetrahydrofolate reductase C677T mutation and risk of retinal vein thrombosis. Soltanpour MS, etal., J Res Med Sci. 2013 Jun;18(6):487-91.
139. Association between 5,10-methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and conotruncal heart defects. Storti S, etal., Clin Chem Lab Med. 2003 Mar;41(3):276-80.
140. Trafficking of intracellular folates. Stover PJ and Field MS, Adv Nutr. 2011 Jul;2(4):325-31. doi: 10.3945/┬┐an.111.000596. Epub 2011 Jun 28.
141. Polymorphisms in 1-carbon metabolism, epigenetics and folate-related pathologies. Stover PJ J Nutrigenet Nutrigenomics. 2011;4(5):293-305. doi: 10.1159/000334586. Epub 2012 Feb 22.
142. The TT genotype of the C677T polymorphism in the methylentetrahydrofolate reductase as a risk factor in thrombotic microangiopathies: results from a pilot study. Sucker C, etal., Clin Appl Thromb Hemost. 2009 May-Jun;15(3):283-8.
143. Alcohol drinking and one-carbon metabolism-related gene polymorphisms on pancreatic cancer risk. Suzuki T, etal., Cancer Epidemiol Biomarkers Prev. 2008 Oct;17(10):2742-7.
144. Analysis of candidate genes for age-related macular degeneration subtypes in the Japanese population. Tanaka K, etal., Mol Vis. 2011;17:2751-8. Epub 2011 Oct 22.
145. Methylene tetrahydrofolate reductase gene polymorphism in Egyptian children with acute lymphoblastic leukemia. Tantawy AA, etal., Blood Coagul Fibrinolysis. 2010 Jan;21(1):28-34. doi: 10.1097/MBC.0b013e32833135e9.
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147. Effect of methylenetetrahydrofolate reductase 677C-->T polymorphism on toxicity and homocysteine plasma level after chronic methotrexate treatment of ovarian cancer patients. Toffoli G, etal., Int J Cancer. 2003 Jan 20;103(3):294-9.
148. Analysis of the MTHFR (methylenetetrahydrofolate reductase) 677 C>T and 1298 A>C polymorphisms in BCR-ABL-negative myeloproliferative neoplasms. Trifa AP, etal., Int J Lab Hematol. 2013 Feb;35(1):e9-12. doi: 10.1111/ijlh.12017. Epub 2012 Oct 29.
149. Role of thrombotic risk factors in end-stage renal disease. Tripathi G, etal., Clin Appl Thromb Hemost. 2010 Apr;16(2):132-40. Epub 2009 Jun 10.
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Additional References at PubMed
PMID:10551815   PMID:12673793   PMID:15217352   PMID:20031578   PMID:24769206   PMID:25736335   PMID:25855017   PMID:29222906  


Comparative Map Data
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
GRCr85163,748,346 - 163,768,141 (+)NCBIGRCr8
mRatBN7.25158,465,248 - 158,484,999 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5158,465,296 - 158,483,797 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.05164,844,642 - 164,864,360 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5164,845,925 - 164,860,910 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05168,502,556 - 168,522,350 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45165,112,850 - 165,126,885 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15165,123,406 - 165,137,073 (+)NCBI
Celera5156,747,024 - 156,766,742 (+)NCBICelera
Cytogenetic Map5q36NCBI
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38111,785,723 - 11,805,964 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl111,785,723 - 11,806,455 (-)EnsemblGRCh38hg38GRCh38
GRCh37111,845,780 - 11,866,021 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36111,768,374 - 11,788,702 (-)NCBINCBI36Build 36hg18NCBI36
Build 34111,780,944 - 11,800,248NCBI
Celera110,959,433 - 10,979,782 (-)NCBICelera
Cytogenetic Map1p36.22NCBI
HuRef111,000,872 - 11,021,217 (-)NCBIHuRef
CHM1_1111,833,709 - 11,854,054 (-)NCBICHM1_1
T2T-CHM13v2.0111,329,802 - 11,350,048 (-)NCBIT2T-CHM13v2.0
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
GRCm394148,123,534 - 148,144,019 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4148,123,534 - 148,144,008 (+)EnsemblGRCm39 Ensembl
GRCm384148,039,077 - 148,059,562 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4148,039,077 - 148,059,551 (+)EnsemblGRCm38mm10GRCm38
MGSCv374147,413,186 - 147,433,671 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364146,885,022 - 146,903,349 (+)NCBIMGSCv36mm8
Celera4150,305,674 - 150,326,065 (+)NCBICelera
Cytogenetic Map4E1NCBI
cM Map478.67NCBI
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
ChiLan1.0 EnsemblNW_0049554862,096,379 - 2,112,240 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554862,096,379 - 2,112,240 (+)NCBIChiLan1.0ChiLan1.0
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
NHGRI_mPanPan1-v21216,418,108 - 216,434,079 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11215,063,577 - 215,079,672 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0110,548,196 - 10,568,174 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1111,766,334 - 11,785,645 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl111,766,334 - 11,785,419 (-)Ensemblpanpan1.1panPan2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
CanFam3.1284,445,526 - 84,457,435 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl284,380,919 - 84,536,818 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha280,977,302 - 80,990,296 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0285,109,058 - 85,123,378 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl285,109,070 - 85,122,016 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1281,858,180 - 81,870,539 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0282,857,476 - 82,872,293 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0283,920,334 - 83,933,329 (+)NCBIUU_Cfam_GSD_1.0
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
HiC_Itri_2NW_02440505834,798,656 - 34,813,131 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936474623,291 - 638,193 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936474623,438 - 637,849 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
Sscrofa11.1 Ensembl671,863,637 - 71,881,820 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1671,863,637 - 71,882,118 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2665,776,804 - 65,791,405 (-)NCBISscrofa10.2Sscrofa10.2susScr3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
ChlSab1.120119,987,667 - 120,003,611 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20119,990,133 - 120,002,950 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605423,855,633 - 23,871,475 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
HetGla_female_1.0 EnsemblNW_0046248181,187,869 - 1,199,168 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248181,184,736 - 1,202,708 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2


Variants in Mthfr
281 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:106
Count of miRNA genes:91
Interacting mature miRNAs:97
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1576314Eutr1Estrogen induced uterine response QTL 1uterus integrity trait (VT:0010575)pyometritis severity score (CMO:0002009)52138965166875058Rat
1578766Tcas11Tongue tumor susceptibility QTL 114.12tongue integrity trait (VT:0010553)number of squamous cell tumors of the tongue with diameter greater than 3 mm (CMO:0001950)546711509161317411Rat
61393Bp7Blood pressure QTL 74.50.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)560293434161481680Rat
1302790Scl20Serum cholesterol level QTL 206.40.0001blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)582394392166664054Rat
1641920Colcs1Colorectal carcinoma susceptibility QTL 12.990.0055intestine integrity trait (VT:0010554)benign colorectal tumor surface area measurement (CMO:0001799)5121846814166846814Rat
10053720Scort26Serum corticosterone level QTL 262.060.0147blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)5124965598166875058Rat
724525Bp147Blood pressure QTL 1474.30.0001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)5126424772166875058Rat
1598819Bp292Blood pressure QTL 2924.3arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)5127798274166875058Rat
1598861Cm64Cardiac mass QTL 642.9heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)5127798274166875058Rat
8552908Pigfal4Plasma insulin-like growth factor 1 level QTL 46.6blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)5128506074166875058Rat
8694169Bw148Body weight QTL 14850.001body mass (VT:0001259)body weight gain (CMO:0000420)5128506074166875058Rat
634349Bp139Blood pressure QTL 1390.001arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)5128924607166875058Rat
738018Anxrr4Anxiety related response QTL 45.1exploratory behavior trait (VT:0010471)percentage of entries into a discrete space in an experimental apparatus (CMO:0000961)5130130159166875058Rat
7794791Mcs33Mammary carcinoma susceptibility QTL 331.93mammary gland integrity trait (VT:0010552)mammary tumor incidence/prevalence measurement (CMO:0000946)5131345754166875058Rat
631505Bp103Blood pressure QTL 1033.2arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)5132717196165560427Rat
631562Apr2Acute phase response QTL 23.7blood murinoglobulin 1 amount (VT:0010597)plasma murinoglobulin 1 level (CMO:0001931)5135927956166875058Rat
61444Strs2Sensitivity to stroke QTL 24.7cerebrum integrity trait (VT:0010549)post-insult time to onset of cerebrovascular lesion (CMO:0002343)5135929696166875058Rat
1331721Bp210Blood pressure QTL 2103.413arterial blood pressure trait (VT:2000000)blood pressure time series experimental set point of the baroreceptor response (CMO:0002593)5143069996166846814Rat
2302369Scl60Serum cholesterol level QTL 603.13blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)5143608201161165651Rat
2313096Bmd78Bone mineral density QTL 783.10.0001tibia mineral mass (VT:1000283)total volumetric bone mineral density (CMO:0001728)5144377876161317411Rat
1298090Bp155Blood pressure QTL 1553.8arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)5151006154161165494Rat
1354631Swd2Spike wave discharge measurement QTL 23.640.0002brain electrophysiology trait (VT:0010557)brain total spike-and-wave discharge duration (CMO:0001740)5151113452164465185Rat
631272Lanf1Left ventricular atrial natriuretic factor QTL 112heart left ventricle natriuretic peptide A amount (VT:0010596)heart left ventricle natriuretic peptide A level (CMO:0002165)5151113452166875058Rat
1549904Neuinf1Neuroinflammation QTL 130nervous system integrity trait (VT:0010566)blood T lymphocyte count (CMO:0000110)5154828214166875058Rat

Genetic Models
This gene Mthfr is modified in the following models/strains:


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
Medium 4 2 2 2 51 35 32
Low 3 39 55 39 19 39 8 11 23 9 11 8
Below cutoff


Nucleotide Sequences
RefSeq Transcripts NM_001427042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_001074061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006225611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006225612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006225614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006225615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006225616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006239413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006239414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006239416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006239417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006239418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_342975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC094126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH473968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JAXUCZ010000005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U57049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENSRNOT00000011384   ⟹   ENSRNOP00000011384
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl5158,465,296 - 158,483,797 (+)Ensembl
Rnor_6.0 Ensembl5164,845,925 - 164,860,910 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000102508   ⟹   ENSRNOP00000085916
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl5158,467,151 - 158,483,797 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000118752   ⟹   ENSRNOP00000086290
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl5158,465,415 - 158,483,797 (+)Ensembl
RefSeq Acc Id: NM_001427042   ⟹   NP_001413971
RefSeq Status: VALIDATED
Rat AssemblyChrPosition (strand)Source
GRCr85163,748,554 - 163,768,105 (+)NCBI
RefSeq Acc Id: XM_006239413   ⟹   XP_006239475
Rat AssemblyChrPosition (strand)Source
GRCr85163,748,919 - 163,768,141 (+)NCBI
mRatBN7.25158,465,774 - 158,484,999 (+)NCBI
Rnor_6.05164,845,192 - 164,864,360 (+)NCBI
Rnor_5.05168,502,556 - 168,522,350 (+)NCBI
RefSeq Acc Id: XM_006239414   ⟹   XP_006239476
Rat AssemblyChrPosition (strand)Source
GRCr85163,748,346 - 163,768,141 (+)NCBI
mRatBN7.25158,465,248 - 158,484,999 (+)NCBI
Rnor_6.05164,844,642 - 164,864,360 (+)NCBI
Rnor_5.05168,502,556 - 168,522,350 (+)NCBI
RefSeq Acc Id: XM_006239417   ⟹   XP_006239479
Rat AssemblyChrPosition (strand)Source
GRCr85163,748,531 - 163,768,141 (+)NCBI
mRatBN7.25158,465,392 - 158,484,999 (+)NCBI
Rnor_6.05164,844,754 - 164,864,360 (+)NCBI
Rnor_5.05168,502,556 - 168,522,350 (+)NCBI
RefSeq Acc Id: XM_342975   ⟹   XP_342976
Rat AssemblyChrPosition (strand)Source
GRCr85163,748,931 - 163,768,141 (+)NCBI
mRatBN7.25158,465,777 - 158,484,999 (+)NCBI
Rnor_6.05164,845,192 - 164,864,360 (+)NCBI
Rnor_5.05168,502,556 - 168,522,350 (+)NCBI
RGSC_v3.45165,112,850 - 165,126,885 (+)RGD
RefSeq Acc Id: XP_342976   ⟸   XM_342975
- Peptide Label: isoform X1
- UniProtKB: A0A8I6A4C5 (UniProtKB/TrEMBL),   A6IU41 (UniProtKB/TrEMBL),   A6IU42 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006239476   ⟸   XM_006239414
- Peptide Label: isoform X3
- UniProtKB: D4A7E8 (UniProtKB/TrEMBL),   A6IU40 (UniProtKB/TrEMBL),   A6IU42 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006239479   ⟸   XM_006239417
- Peptide Label: isoform X4
- UniProtKB: A0A8I6A5Q6 (UniProtKB/TrEMBL),   A6IU43 (UniProtKB/TrEMBL),   A6IU42 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006239475   ⟸   XM_006239413
- Peptide Label: isoform X2
- UniProtKB: A6IU42 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000011384   ⟸   ENSRNOT00000011384
RefSeq Acc Id: ENSRNOP00000086290   ⟸   ENSRNOT00000118752
RefSeq Acc Id: ENSRNOP00000085916   ⟸   ENSRNOT00000102508
RefSeq Acc Id: NP_001413971   ⟸   NM_001427042
- UniProtKB: A0A8I6A5Q6 (UniProtKB/TrEMBL),   A6IU42 (UniProtKB/TrEMBL),   A6IU43 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-D4A7E8-F1-model_v2 AlphaFold D4A7E8 1-695 view protein structure


eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1309952 AgrOrtholog
BioCyc Gene G2FUF-39199 BioCyc
Ensembl Genes ENSRNOG00000008553 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000011384.8 UniProtKB/TrEMBL
  ENSRNOT00000102508.1 UniProtKB/TrEMBL
  ENSRNOT00000118752.1 UniProtKB/TrEMBL
InterPro FAD-linked_oxidoreductase-like UniProtKB/TrEMBL
  Fadh2_euk UniProtKB/TrEMBL
  Mehydrof_redctse UniProtKB/TrEMBL
PhenoGen Mthfr PhenoGen
RatGTEx ENSRNOG00000008553 RatGTEx
Superfamily-SCOP SSF51730 UniProtKB/TrEMBL

Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2010-12-16 Mthfr  methylenetetrahydrofolate reductase (NAD(P)H)  Mthfr  5,10-methylenetetrahydrofolate reductase (NADPH)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-08-29 Mthfr  5,10-methylenetetrahydrofolate reductase (NADPH)  Mthfr  5,10-methylenetetrahydrofolate reductase  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2008-03-17 Mthfr  5,10-methylenetetrahydrofolate reductase  Mthfr_predicted  5,10-methylenetetrahydrofolate reductase (NADPH) (predicted)  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2005-01-12 Mthfr_predicted  5,10-methylenetetrahydrofolate reductase (NADPH) (predicted)      Symbol and Name status set to approved 70820 APPROVED