QuickView for MTHFR (gene)

Gene Symbol:

MTHFR Homo sapiens

Full name:

methylenetetrahydrofolate reductase

Synonyms:

methylenetetrahydrofolate reductase, 5,10-methylenetetrahydrofolate reductase (NADPH), methylenetetrahydrofolate reductase (NAD(P)H)

Genomic Location:

Chr 1: 11768374-11788702

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...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

MAZR_01 ,  TITF1_Q3 ,  CAGGTG_E12_Q6 ,  CACBINDINGPROTEIN_Q6 ,  GGGTGGRR_PAX4_03

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-22 ,  Predicted Gene Targets for miR-24

Cytogenetic Map:

1p36.22

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