Synonyms:5-methyltetrahydrofolate-homocysteine methyltransferase, ENTREZ:4548, HGNC:7468, HMAG, MIM:156570, MS, MTR, NM_000254, NM_001291939, NM_001291940, NP_000245, NP_001278868, NP_001278869, XM_005273141, XM_006711770, XM_011544194, XM_017001329, XM_017001330, XP_005273198, XP_006711833, XP_011542496, XP_016856818, XP_016856819, cblG
Omim:OMIM:156570
Id:ENSG00000116984
Hgnc:HGNC:7468
Description:5-methyltetrahydrofolate-homocysteine methyltransferase
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]