Methylenetetrahydrofolate reductase (MTHFR) is an enzyme () 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 can cause the genetic disorder homocystinuria, particularly a mutation at the C677 locus of chromosome 4 where a tyrosine nucleotide is in place of the normal cytosine nucleotide.

References

• MTHFR and homocysteine, Dr. Stephan Moll, retrieved 28 December 2004.

EC 1.5.1

Metilentetrahidrofolat redüktaz