MTR encodes the enzyme 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G.
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Protein Aliases: 5-methyltetrahydrofolate--homocysteine methyltransferase; 5-methyltetrahydrofolate-homocysteine methyltransferase 1; cblG; cobalamin-dependent methionine synthase; Methionine synthase; MS; MTR; Vitamin-B12 dependent methionine synthase
Gene Aliases: AI894170; cblG; D830038K18Rik; HMAG; MS; MTR