Full name: 5-methyltetrahydrofolate-homocysteine methyltransferase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: HMAG; MS; 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

Gene size: 108701bp

Exon count: 33