The MTHFR Gene—What is it? MTHFR stands for methylenetetrahydrofolate reductase, a gene located on chromosome 1p36.3. This gene encodes a specific enzyme in the body, necessary to convert the molecule, 5,10-methylenetetrahydrofolate to 5 methyltetrahydrofolate.[3] Why is MTHFR important? The MTHFR gene is critical in amino acid processing. The successful conversion of homocysteine, a common amino acid in the blood, to methionine,
