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.[provided by RefSeq, Oct 2009]
The human MTHFR gene is shown in the context of the human genome below. To see information about the MTHFR gene in other species, please use the Search Tool to select your desired species. GenScript has in-stock ORF clones for mouse MTHFR, rat MTHFR, and human MTHFR, as well as on-demand MTHFR ORF clones in 183 other species.
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