XB-FEAT-1005401

mthfr

This is the community wiki page for the gene mthfr please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

summary for human MTHFR from NCBI

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]