GATM (gene)

Glycine amidinotransferase (L-arginine:glycine amidinotransferase)
PDB rendering based on 1jdw.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1jdw​, 1jdx​, 2jdw​, 2jdx​, 3jdw​, 4jdw​, 5jdw​, 6jdw​, 7jdw​, 8jdw​, 9jdw​
Identifiers
Symbols	GATM ; AT; AGAT
External IDs	Template:OMIM5 Template:MGI HomoloGene: 1136
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process 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

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

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.

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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.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)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.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)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)