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The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for the remethylation of homocysteine to methionine. Genetic variation in this gene affects susceptibility to occlusive vascular disease, neural tube defects, colon cancer, and acute leukemia, and mutations in this gene have been associated with methylenetetrahydrofolate reductase deficiency.
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