| Protein Name | glycine amidinotransferase |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 2628 |
| Gene Symbol | GATM |
| UniProt | P50440 (GATM_HUMAN), A0A140VK19 (A0A140VK19_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
42
Total Number of Articles : 83 |
Description |
glycine amidinotransferase |
| Gene 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] |
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| Properties | |