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.
蛋白别名: 5,10-methylenetetrahydrofolate reductase (NADPH); Methylenetetrahydrofolate reductase; RP11-56N19.4
UniProt ID: (Human) P42898
Entrez Gene ID: (Human) 4524