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  • One carbon pool by folate
    Homo sapiens (human) one gene
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MTHFR

The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in thisgene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acuteleukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.(providedby RefSeq, Oct 2009)

The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine

Genetic variation in thisgene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acuteleukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.(providedby RefSeq, Oct 2009)