GAMT, Official Symbol GAMTprovided by HGNC Official Full Name guanidinoacetate N-methyltransferaseprovided by HGNC Primary source HGNC:HGNC:4136 See related Ensembl:ENSG00000130005 MIM:601240; AllianceGenome:HGNC:4136 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 PIG2; CCDS2; TP53I2; HEL-S-20 Summary The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012] Expression Broad expression in liver (RPKM 37.8), pancreas (RPKM 12.2) and 15 other tissues See more Orthologs mouse all