GATM, Official Symbol GATMprovided by HGNC Official Full Name glycine amidinotransferaseprovided by HGNC Primary source HGNC:HGNC:4175 See related Ensembl:ENSG00000171766 MIM:602360; AllianceGenome:HGNC:4175 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AT; RFS; AGAT; FRTS; CCDS3; FRTS1 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 cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 706.9), liver (RPKM 467.2) and 8 other tissues See more Orthologs mouse all