Guanidinoacetate-N-Methyltransferase (GAMT)

PIG2; TP53I2; Guanidinoacetate Methyltransferase; Guanidinoacetate Transmethylase; Methionine-Guanidinoacetic Transmethylase; Guanidoacetate Methyltransferase

SPN	U353
HGNC	4136
MGI	1098221
PubMed	16855203
RGD	2659
UniProt	Q14353
Wiki	GAMT

Guanidinoacetate N-methyltransferase 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.

This enzyme belongs to the family of transferases, specifically those transferring one-carbon group methyltransferases. The systematic name of this enzyme class is S-adenosyl-L-methionine:N-guanidinoacetate methyltransferase. This enzyme participates in glycine, serine and threonine metabolism and arginine and proline metabolism.

Reference

"Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA."
Biochim. Biophys. Acta 1264:265-267(1995) [PubMed] [Europe PMC] [Abstract]

"The human guanidinoacetate methyltransferase (GAMT) gene maps to a syntenic region on 19p13.3, homologous to band C of mouse chromosome 10, but GAMT is not mutated in jittery mice."
Biochem. Biophys. Res. Commun. 238:723-727(1997) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biology of human chromosome 19."
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man."
Am. J. Hum. Genet. 58:914-922(1996) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]

"The crystal structure of human guanidinoacetate N-methyltransferase with SAH."
Submitted (MAR-2006) to the PDB data bank

"Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree."
Mol. Genet. Metab. 77:326-331(2002) [PubMed] [Europe PMC] [Abstract]

"Characterization of seven novel mutations in seven patients with GAMT deficiency."
Hum. Mutat. 23:524-524(2004) [PubMed] [Europe PMC] [Abstract]

"Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation."
Am. J. Med. Genet. A 133:122-127(2005) [PubMed] [Europe PMC] [Abstract]

"A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme."
Mol. Genet. Metab. 87:88-90(2006) [PubMed] [Europe PMC] [Abstract]

"GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis."
Neurology 67:480-484(2006) [PubMed] [Europe PMC] [Abstract]

"High frequency of creatine deficiency syndromes in patients with unexplained mental retardation."
Neurology 67:1713-1714(2006) [PubMed] [Europe PMC] [Abstract]

"Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology."
Mol. Genet. Metab. 91:294-296(2007) [PubMed] [Europe PMC] [Abstract]

"Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language."
Dev. Med. Child. Neurol. 51:404-407(2009) [PubMed] [Europe PMC] [Abstract]

"Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes."
Mol. Genet. Metab. 109:260-268(2013) [PubMed] [Europe PMC] [Abstract]

"Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene."
Hum. Mutat. 35:462-469(2014) [PubMed] [Europe PMC] [Abstract]