Also known asHMAG, MS, cblG
The MTR gene provides instructions for making an enzyme called 5-methyltetrahydrofolate-homocysteine methyltransferase, also known as methionine synthase. This enzyme is involved in the metabolism of the amino acid methionine, which is important for many functions in the body, including the production of proteins and other important molecules. The MTR enzyme plays a critical role in the synthesis of methionine, as it converts the amino acid homocysteine back into methionine.
Mutations in the MTR gene can cause a condition called methylenetetrahydrofolate reductase deficiency, which is characterized by a deficiency in the MTR enzyme. Symptoms of MTR deficiency can include anemia, intellectual disability, developmental delays, and a higher risk of developing certain types of cancer. Treatment for MTR deficiency may include supplements of folic acid and other nutrients, as well as medications to manage symptoms.