Full name: methylenetetrahydrofolate reductase

Gene type: protein coding

RefSeq status: REVIEWED

Summary: 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]

Expression: Ubiquitous expression in lung (RPKM 7.5), thyroid (RPKM 7.2) and 25 other tissues

Gene size: 20242bp

Exon count: 13