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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 5,10-methylenetetrahydrofolate reductase (NADPH); methylenetetrahydrofolate reductase; methylenetetrahydrofolate reductase (NAD(P)H); Methylenetetrahydrofolate reductase (NADPH); MTHFR; MTHFR long isoform; MTHFR short isoform; RP11-56N19.4; unnamed protein product
基因别名: AI323986; MTHFR
UniProt ID: (Human) P42898, (Mouse) Q9WU20
Entrez Gene ID: (Human) 4524, (Rat) 362657, (Mouse) 17769