Methylenetetrahydrofolate reductase
Methylenetetrahydrofolate reductase (MTHFR) is an enzyme (EC 1.5.1.20) that exists in human cells that assists with metabolism and the reduction of blood homocysteine levels. Polymorphisms have been linked to hyperhomocysteinemia (high blood homocysteine levels). Various mutations cause the genetic disorder homocystinuria.
References
- OMIM 607093
- MTHFR and homocysteine, Dr. Stephan Moll, retrieved 28 December 2004.