基因名:
MTHFR
产品别名:
MTHFR; methylenetetrahydrofolate reductase; methylenetetrahydrofolate reductase; methylenetetrahydrofolate reductase; 5,10-methylenetetrahydrofolate reductase (NADPH); methylenetetrahydrofolate reductase (NAD(P)H); 亚甲基四氢叶酸还原酶(MTHFR); 亚甲基四氢叶酸还原酶MTHFR;
背景信息:
MTHFR 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 neural tube defects, occlusive vascular disease, colon cancer and acute leukemia. Mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.