Glycine amidinotransferase , mitochondrial enzyme that in humans is encoded by the GATM gene .[ 5] [ 6]
GATM Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1JDW , 1JDX , 2JDW , 2JDX , 3JDW , 4JDW , 5JDW , 6JDW , 7JDW , 8JDW , 9JDW
Identifiers Aliases GATM External IDs OMIM : 602360 ; MGI : 1914342 ; HomoloGene : 1136 ; GeneCards : GATM ; OMA :GATM - orthologs Wikidata
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]
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