MTR

Full Name: 5-Methyltetrahydrofolate-Homocysteine Methyltransferase

BACKGROUND: This gene encodes the 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. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Synonyms: HMAG; MS; cblG