P42898

MTHFR(Methylenetetrahydrofolate reductase) is a crucial enzyme in the folate metabolic pathway with a key role in generating methyl groups. MTHFR reduces 5,10-methylenetetrahydrofolate (5,10-methyleneTHF) to 5-methylTHF, the primary carbon donor for methionine production from homocysteine. In humans and mice studies, mutations and polymorphisms in MTHFR are associated with impaired spermatogenesis and male infertility. Genetic variation in MTHFR 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.