Immunogen sequence: DIGKNIVGVV LGCNNFRVID LGVMTPCDKI LKAALDHKAD IIGLSGLITP SLDEMIFVAK EMERLAIRIP LLI
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. [provided by RefSeq, May 2014]
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Protein Aliases: 5-methyltetrahydrofolate--homocysteine methyltransferase; 5-methyltetrahydrofolate-homocysteine methyltransferase 1; cblG; cobalamin-dependent methionine synthase; Methionine synthase; MS; Vitamin-B12 dependent methionine synthase
Gene Aliases: cblG; HMAG; MS; MTR
UniProt ID: (Human) Q99707
Entrez Gene ID: (Human) 4548