Entrez gene ID | | 2628 |
Official gene symbol | | GATM |
Full name | | glycine amidinotransferase (L-arginine:glycine amidinotransferase) |
Aliases | | ,AGAT,AT, |
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 mental retardation, language impairment, and behavioral disorders. [provided by RefSeq] |
Location | | Chromosome: 15 Locus: 15q21.1 |
Gene position | | 45670980 - 45653322 Map Viewer |
Gene orientation | | minus |
Gene size | | 17659 bp |
Gene sequence |
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OMIM ID | | 602360 |
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