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About: GATM (gene)     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : dbo:Protein, within Data Space : dbpedia.org associated with source document(s)

Type: ThingBiomoleculegeneBiomoleculeGeneHumanGeneprotein New Facet based on Instances of this Class

Glycine amidinotransferase, mitochondrial is an enzyme that in humans is encoded by the GATM gene. 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.