MTHFR (Methylenetetrahydrofolate Reductase) is a Protein Coding gene. Diseases associated with MTHFR include Homocystinuria Due To Deficiency Of N -Methylenetetrahydrofolate Reductase Activity and Neural Tube Defects, Folate-Sensitive. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Carbon metabolism.