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gatm

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Official Full Name
glycine amidinotransferase (L-arginine:glycine amidinotransferase)
Background
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.
Synonyms
GATM; glycine amidinotransferase (L-arginine:glycine amidinotransferase); glycine amidinotransferase, mitochondrial; AGAT; mitochondrial; AT; GATM_HUMAN; Glycine amidinotransferase; L-arginine:glycine amidinotransferase; Transamidinase; AT, AGAT, GATM; arginine:glycine amidinotransferase; cb409; zgc:65855; wu:fa08a06

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