Protein-coding gene in the species Homo sapiens
GATM |
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![](https://upload.wikimedia.org/wikipedia/commons/thumb/5/55/Protein_GATM_PDB_1jdw.png/250px-Protein_GATM_PDB_1jdw.png) |
Available structures |
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PDB | Ortholog search: PDBe RCSB |
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List of PDB id codes |
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1JDW, 1JDX, 2JDW, 2JDX, 3JDW, 4JDW, 5JDW, 6JDW, 7JDW, 8JDW, 9JDW |
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Identifiers |
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Aliases | GATM, AGAT, AT, CCDS3, glycine amidinotransferase, FRTS1 |
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External IDs | OMIM: 602360 MGI: 1914342 HomoloGene: 1136 GeneCards: GATM |
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Wikidata |
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Glycine amidinotransferase, mitochondrial is an enzyme that in humans is encoded by the GATM gene.[5][6]
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.[6]