GAMT

Guanidinoacetate N-methyltransferase, also known as GAMT, is a human gene.cite web | title = Entrez Gene: GAMT guanidinoacetate N-methyltransferase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2593| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: GAMT guanidinoacetate N-methyltransferase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2593| accessdate = ]

ee also

* Guanidinoacetate methyltransferase deficiency

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Almeida LS, Vilarinho L, Darmin PS, "et al." |title=A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal. |journal=Mol. Genet. Metab. |volume=91 |issue= 1 |pages= 1–6 |year= 2007 |pmid= 17336114 |doi= 10.1016/j.ymgme.2007.01.005
*cite journal | author=Morris AA, Appleton RE, Power B, "et al." |title=Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy. |journal=J. Inherit. Metab. Dis. |volume=30 |issue= 1 |pages= 100 |year= 2007 |pmid= 17171576 |doi= 10.1007/s10545-006-0478-2
*cite journal | author=Almeida LS, Rosenberg EH, Martinez-Muñoz C, "et al." |title=Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts. |journal=Mol. Genet. Metab. |volume=89 |issue= 4 |pages= 392–4 |year= 2007 |pmid= 16899382 |doi= 10.1016/j.ymgme.2006.06.006
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Grimwood J, Gordon LA, Olsen A, "et al." |title=The DNA sequence and biology of human chromosome 19. |journal=Nature |volume=428 |issue= 6982 |pages= 529–35 |year= 2004 |pmid= 15057824 |doi= 10.1038/nature02399
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Komoto J, Huang Y, Hu Y, "et al." |title=Crystallization and preliminary x-ray diffraction studies of guanidinoacetate methyltransferase from rat liver. |journal=Acta Crystallogr. D Biol. Crystallogr. |volume=55 |issue= Pt 11 |pages= 1928–9 |year= 2000 |pmid= 10531498 |doi=
*cite journal | author=Chae YJ, Chung CE, Kim BJ, "et al." |title=The gene encoding guanidinoacetate methyltransferase (GAMT) maps to human chromosome 19 at band p13.3 and to mouse chromosome 10. |journal=Genomics |volume=49 |issue= 1 |pages= 162–4 |year= 1998 |pmid= 9570966 |doi= 10.1006/geno.1998.5236
*cite journal | author=Jenne DE, Olsen AS, Zimmer M |title=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. |journal=Biochem. Biophys. Res. Commun. |volume=238 |issue= 3 |pages= 723–7 |year= 1997 |pmid= 9325156 |doi= 10.1006/bbrc.1997.9992
*cite journal | author=Polyak K, Xia Y, Zweier JL, "et al." |title=A model for p53-induced apoptosis. |journal=Nature |volume=389 |issue= 6648 |pages= 300–5 |year= 1997 |pmid= 9305847 |doi= 10.1038/38525
*cite journal | author=Stöckler S, Isbrandt D, Hanefeld F, "et al." |title=Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. |journal=Am. J. Hum. Genet. |volume=58 |issue= 5 |pages= 914–22 |year= 1996 |pmid= 8651275 |doi=
*cite journal | author=Isbrandt D, von Figura K |title=Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA. |journal=Biochim. Biophys. Acta |volume=1264 |issue= 3 |pages= 265–7 |year= 1996 |pmid= 8547310 |doi=

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