Gene Symbol | GATM |
Entrez Gene ID | 2628 |
Full Name | glycine amidinotransferase |
Synonyms | AGAT,AT,CCDS3 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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 cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Cerebral creatine deficiency syndrome 3, 612718 (3) |