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Description

Methylenetetrahydrofolate reductase or 5,10-methylenetetrahydrofolate reductase (EC 1.5.1.20, UniProt P42898) is encoded by the MTHFR gene (Gene ID 4524) in human. MTHFR catalyzes the reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the predominant circulatory form of folate and carbon donor for the re-methylation of homocysteine to methionine. Defects in MTHFR cause plasma homocysteine elevation or hperhomocysteinaemia, a risk factor for cerebrovascular, peripheral vascular, and coronary heart disease. Multiple transcription start sites and alternative splicing in the MTHFR gene result in two enzyme isoforms.