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Gene: MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1) Homo sapiens
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Symbol: MTHFD1
Name: methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
Description: Exhibits formate-tetrahydrofolate ligase activity; methenyltetrahydrofolate cyclohydrolase activity; and methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity. Involved in carboxylic acid metabolic process. Localizes to the cytosol. Implicated in Down syndrome; cleft lip; cleft palate; neural tube defect (multiple); and tetralogy of Fallot. Biomarker of Down syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methylenetetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase; C-1-tetrahydrofolate synthase, cytoplasmic; c1-tetrahydrofolate synthase; C1-THF synthase; CIMAH; cytoplasmic C-1-tetrahydrofolate synthase; methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase; MTHFC; MTHFD
Orthologs:
Related Pseudogenes: MTHFD1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1464,388,031 - 64,463,457 (+)Ensembl
GRCh381464,388,353 - 64,460,025 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371464,854,754 - 64,926,725 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361463,924,846 - 63,996,474 (+)NCBINCBI36hg18NCBI36
Build 341463,924,845 - 63,996,474NCBI
Celera1444,912,512 - 44,984,454 (+)NCBI
Cytogenetic Map14q23.3NCBI
HuRef1445,027,910 - 45,099,523 (+)NCBIHuRef
CHM1_11464,794,532 - 64,866,438 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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Comparative Map Data
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Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
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Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on MTHFD1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 732147
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.