MTR, Official Symbol MTRprovided by HGNC Official Full Name 5-methyltetrahydrofolate-homocysteine methyltransferaseprovided by HGNC Primary source HGNC:HGNC:7468 See related Ensembl:ENSG00000116984 MIM:156570; AllianceGenome:HGNC:7468 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MS; HMAG; cblG Summary 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] Expression Ubiquitous expression in kidney (RPKM 5.8), thyroid (RPKM 4.9) and 25 other tissues See more Orthologs mouse all