GAMT

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It has been suggested that this article or section be merged with Guanidinoacetate N-methyltransferase. (Discuss)

Guanidinoacetate N-methyltransferase

PDB rendering based on 1khh.

Available structures: 1khh, 1p1b, 1p1c, 1zx0

Identifiers

Symbol(s)

GAMT; PIG2; TP53I2

External IDs

OMIM: 601240 MGI: 1098221 HomoloGene: 32089

Gene ontology
Molecular Function:	• methyltransferase activity • transferase activity • guanidinoacetate N-methyltransferase activity
Biological Process:	• creatine biosynthetic process • muscle contraction • spermatogenesis • organ morphogenesis • regulation of body size

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000156 (mRNA)
NP_000147 (protein)

NM_010255 (mRNA)
NP_034385 (protein)

Location

Chr 19: 1.35 - 1.35 Mb

Chr 10: 79.66 - 79.66 Mb

Pubmed search

[1]

[2]

Guanidinoacetate N-methyltransferase, also known as GAMT, is a human gene.^[1]

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.^[1]

[edit] See also

Guanidinoacetate methyltransferase deficiency

[edit] References

^ ^a ^b Entrez Gene: GAMT guanidinoacetate N-methyltransferase.

[edit] 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.