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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.
Gene Name: | 5-methyltetrahydrofolate-homocysteine methyltransferase |
Synonyms: | MTR, MS, CblG, Methionine synthase |
Target Sequences: | NM_000254 NP_000245.2 Q99707 |
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