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.MTHFR (Methylenetetrahydrofolate Reductase) is a Protein Coding gene. Diseases associated with MTHFR include Homocystinuria Due To Mthfr Deficiency and Thrombophilia Due To Thrombin Defect. Among its related pathways are One carbon pool by folate and Folate-Alcohol and Cancer Pathway. GO annotations related to this gene include protein complex binding and NADP binding.