基因名:
MTR
产品别名:
HMAG; MS; cblG; MTR; 5-methyltetrahydrofolate-homocysteine methyltransferase; 5-methyltetrahydrofolate-homocysteine methyltransferase; methionine synthase; 5-methyltetrahydrofolate-homocysteine methyltransferase 1; cobalamin-dependent methionine synthase; vitamin-B12 dependent methionine synthase; 5-甲基四氢叶酸高半胱氨酸甲基转移酶(MTR); 蛋氨酸合成酶MTR;
背景信息:
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]