Gene Symbol | MTR |
Entrez Gene ID | 4548 |
Full Name | 5-methyltetrahydrofolate-homocysteine methyltransferase |
Synonyms | HMAG,MS,cblG |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3); {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3) |