靶标:
GATM
产品别名:
AGAT; AT; CCDS3; FRTS1; GATM; glycine amidinotransferase; glycine amidinotransferase; glycine amidinotransferase, mitochondrial; glycine amidinotransferase (L-arginine:glycine amidinotransferase); testicular secretory protein Li 19; transamidinase; GATM蛋白;
背景信息:
This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008],