GAMT

Guanidinoacetate N-methyltransferase
PDB rendering based on 1khh.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1khh​, 1p1b​, 1p1c​, 1zx0​
Identifiers
Symbols	GAMT ; PIG2; TP53I2
External IDs	Template:OMIM5 Template:MGI HomoloGene: 32089
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Guanidinoacetate N-methyltransferase, also known as GAMT, is a human gene.

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.

See also

• Guanidinoacetate methyltransferase deficiency

Further reading

• Almeida LS, Vilarinho L, Darmin PS; et al. (2007). "A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal". Mol. Genet. Metab. 91 (1): 1–6. doi:10.1016/j.ymgme.2007.01.005. PMID 17336114.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Morris AA, Appleton RE, Power B; et al. (2007). "Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy". J. Inherit. Metab. Dis. 30 (1): 100. doi:10.1007/s10545-006-0478-2. PMID 17171576.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Almeida LS, Rosenberg EH, Martinez-Muñoz C; et al. (2007). "Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts". Mol. Genet. Metab. 89 (4): 392–4. doi:10.1016/j.ymgme.2006.06.006. PMID 16899382.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Grimwood J, Gordon LA, Olsen A; et al. (2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–35. doi:10.1038/nature02399. PMID 15057824.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Komoto J, Huang Y, Hu Y; et al. (2000). "Crystallization and preliminary x-ray diffraction studies of guanidinoacetate methyltransferase from rat liver". Acta Crystallogr. D Biol. Crystallogr. 55 (Pt 11): 1928–9. PMID 10531498.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Chae YJ, Chung CE, Kim BJ; et al. (1998). "The gene encoding guanidinoacetate methyltransferase (GAMT) maps to human chromosome 19 at band p13.3 and to mouse chromosome 10". Genomics. 49 (1): 162–4. doi:10.1006/geno.1998.5236. PMID 9570966.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Jenne DE, Olsen AS, Zimmer M (1997). "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 (3): 723–7. doi:10.1006/bbrc.1997.9992. PMID 9325156.CS1 maint: Multiple names: authors list (link)
• Polyak K, Xia Y, Zweier JL; et al. (1997). "A model for p53-induced apoptosis". Nature. 389 (6648): 300–5. doi:10.1038/38525. PMID 9305847.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stöckler S, Isbrandt D, Hanefeld F; et al. (1996). "Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man". Am. J. Hum. Genet. 58 (5): 914–22. PMID 8651275.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Isbrandt D, von Figura K (1996). "Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA". Biochim. Biophys. Acta. 1264 (3): 265–7. PMID 8547310.