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mthfr

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Official Full Name
methylenetetrahydrofolate reductase (NAD(P)H)
Background
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 occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.
Synonyms
MTHFR; methylenetetrahydrofolate reductase (NAD(P)H); 5,10 methylenetetrahydrofolate reductase (NADPH); methylenetetrahydrofolate reductase; 5,10-methylenetetrahydrofolate reductase (NADPH); im:7144504; wu:fa92h12; si:dkeyp-100a1.4; fa92h12