GATM (gene)

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Glycine amidinotransferase (L-arginine:glycine amidinotransferase)
PDB rendering based on 1jdw.
Available structures: 1jdw, 1jdx, 2jdw, 2jdx, 3jdw, 4jdw, 5jdw, 6jdw, 7jdw, 8jdw, 9jdw
Identifiers
Symbol(s) GATM; AT; AGAT
External IDs OMIM: 602360 MGI: 1914342 HomoloGene: 1136
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 2628 67092
Ensembl ENSG00000171766 ENSMUSG00000027199
Uniprot P50440 Q3UAM0
Refseq NM_001482 (mRNA)
NP_001473 (protein)		 NM_025961 (mRNA)
NP_080237 (protein)
Location Chr 15: 43.44 - 43.46 Mb Chr 2: 122.29 - 122.3 Mb
Pubmed search [1] [2]

Glycine amidinotransferase (L-arginine:glycine amidinotransferase), also known as GATM, is a human gene.[1]

This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders.[1]

[edit] References

  1. ^ a b Entrez Gene: GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase).

[edit] Further reading

  • Humm A, Fritsche E, Steinbacher S (1997). "Structure and reaction mechanism of L-arginine:glycine amidinotransferase.". Biol. Chem. 378 (3-4): 193–7. PMID 9165070. 
  • Schulze A (2003). "Creatine deficiency syndromes.". Mol. Cell. Biochem. 244 (1-2): 143–50. PMID 12701824. 
  • Gross MD, Eggen MA, Simon AM, Van Pilsum JF (1987). "The purification and characterization of human kidney L-arginine:glycine amidinotransferase.". Arch. Biochem. Biophys. 251 (2): 747–55. PMID 3800397. 
  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.". Gene 138 (1-2): 171–4. PMID 8125298. 
  • Humm A, Huber R, Mann K (1994). "The amino acid sequences of human and pig L-arginine:glycine amidinotransferase.". FEBS Lett. 339 (1-2): 101–7. PMID 8313955. 
  • Humm A, Fritsche E, Mann K, et al. (1997). "Recombinant expression and isolation of human L-arginine:glycine amidinotransferase and identification of its active-site cysteine residue.". Biochem. J. 322 ( Pt 3): 771–6. PMID 9148748. 
  • Humm A, Fritsche E, Steinbacher S, Huber R (1997). "Crystal structure and mechanism of human L-arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis.". EMBO J. 16 (12): 3373–85. doi:10.1093/emboj/16.12.3373. PMID 9218780. 
  • Fritsche E, Humm A, Huber R (1997). "Substrate binding and catalysis by L-arginine:glycine amidinotransferase--a mutagenesis and crystallographic study.". Eur. J. Biochem. 247 (2): 483–90. PMID 9266688. 
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.". Gene 200 (1-2): 149–56. PMID 9373149. 
  • Fritsche E, Humm A, Huber R (1999). "The ligand-induced structural changes of human L-Arginine:Glycine amidinotransferase. A mutational and crystallographic study.". J. Biol. Chem. 274 (5): 3026–32. PMID 9915841. 
  • Item CB, Stöckler-Ipsiroglu S, Stromberger C, et al. (2001). "Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.". Am. J. Hum. Genet. 69 (5): 1127–33. PMID 11555793. 
  • Carducci C, Birarelli M, Leuzzi V, et al. (2002). "Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies.". Clin. Chem. 48 (10): 1772–8. PMID 12324495. 
  • Battini R, Leuzzi V, Carducci C, et al. (2003). "Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree.". Mol. Genet. Metab. 77 (4): 326–31. PMID 12468279. 
  • 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. 
  • Verhoeven NM, Schor DS, Roos B, et al. (2003). "Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency.". Clin. Chem. 49 (5): 803–5. PMID 12709373. 
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. 
  • 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. 
  • Alessandrì MG, Celati L, Battini R, et al. (2005). "Gas chromatography/mass spectrometry assay for arginine: glycine-amidinotransferase deficiency.". Anal. Biochem. 343 (2): 356–8. doi:10.1016/j.ab.2005.05.003. PMID 15978539. 
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