Gene: MTHFR (methylenetetrahydrofolate reductase (NAD(P)H))  Homo sapiens
Symbol: MTHFR
Name: methylenetetrahydrofolate reductase (NAD(P)H)
Description: The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 5,10-methylenetetrahydrofolate reductase (NADPH); methylenetetrahydrofolate reductase; OTTHUMP00000002367; OTTHUMP00000002368; OTTHUMP00000002373
Orthologs: Mus musculus : Mthfr (5,10-methylenetetrahydrofolate reductase)  MGI
Rattus norvegicus : Mthfr (methylenetetrahydrofolate reductase (NAD(P)H))
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_1111,864,076 - 11,884,433-NCBI
Human Genome Assembly HuRef111,000,872 - 11,021,217-NCBI
Human Genome Assembly GRCh37111,845,787 - 11,866,160-NCBI
Human Genome Assembly Build 36111,768,374 - 11,788,702-NCBI
Human Cytogenetic Map1p36.3 NCBI
Human Genome Assembly111,780,944 - 11,800,248 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)

Annotation    (Toggle Detail/Summary View)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
Promoters

Additional Information

External Database Links
Nomenclature History
  
More on MTHFR
Entrez Gene
Ensembl Gene
Genome Browser: