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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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Protein Aliases: 5,10-methylenetetrahydrofolate reductase (NADPH); Methylenetetrahydrofolate reductase; RP11-56N19.4
Gene Aliases: MTHFR
UniProt ID: (Human) P42898
Entrez Gene ID: (Human) 4524
Molecular Function: reductase