MTRR (gene)

MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase) is a gene that provides instructions for making an enzyme known as methionine synthase reductase. This enzyme plays a crucial role in the metabolism of amino acids, the building blocks of proteins.

Function

The MTRR gene is responsible for the production of methionine synthase reductase, an enzyme that helps maintain the activity of another enzyme called methionine synthase. Methionine synthase is involved in the conversion of the amino acid homocysteine to another amino acid, methionine. This conversion process is important for the proper function of many cellular processes and biochemical reactions, including DNA synthesis and DNA methylation.

Genetic Variations

Several genetic variations (mutations) in the MTRR gene have been identified. Some of these mutations are associated with an increased risk of certain health conditions, such as neural tube defects, cardiovascular disease, and certain types of cancer.

Clinical Significance

The MTRR gene is of clinical significance due to its role in the metabolism of homocysteine. Elevated levels of homocysteine, a condition known as hyperhomocysteinemia, can be caused by mutations in the MTRR gene. This condition is associated with an increased risk of cardiovascular disease and other health problems.

See Also

• Methionine synthase
• Homocysteine
• Methionine
• Hyperhomocysteinemia