GATM (gene) explained

Glycine amidinotransferase, mitochondrial is an enzyme that in humans is encoded by the GATM gene.^{[1] [2]}

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, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders.

Further reading

• Humm A, Fritsche E, Steinbacher S . Structure and reaction mechanism of L-arginine:glycine amidinotransferase . Biol. Chem. . 378 . 3–4 . 193–7 . 1997 . 9165070 . 10.1515/bchm.1997.378.3-4.121 .
• Schulze A . Creatine deficiency syndromes . Mol. Cell. Biochem. . 244 . 1–2 . 143–50 . 2003 . 12701824 . 10.1023/A:1022443503883 . 25056424 .
• Gross MD, Eggen MA, Simon AM, Van Pilsum JF . The purification and characterization of human kidney L-arginine:glycine amidinotransferase . Arch. Biochem. Biophys. . 251 . 2 . 747–55 . 1987 . 3800397 . 10.1016/0003-9861(86)90385-1 .
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Humm A . Recombinant expression and isolation of human L-arginine:glycine amidinotransferase and identification of its active-site cysteine residue . Biochem. J. . 322 . 3. 771–6 . 1997 . 9148748 . 10.1042/bj3220771. 1218254 . Fritsche E . Mann K . 3 . Göhl . M . Huber . R .
• Humm A, Fritsche E, Steinbacher S, Huber R . Crystal structure and mechanism of human L-arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis . EMBO J. . 16 . 12 . 3373–85 . 1997 . 9218780 . 10.1093/emboj/16.12.3373 . 1169963 .
• Fritsche E, Humm A, Huber R . Substrate binding and catalysis by L-arginine:glycine amidinotransferase--a mutagenesis and crystallographic study . Eur. J. Biochem. . 247 . 2 . 483–90 . 1997 . 9266688 . 10.1111/j.1432-1033.1997.00483.x . free .
• Suzuki Y . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . Yoshirtomo-Nakagawa K . Maruyama K . 3 . Suyama . A . Sugano . S .
• Fritsche E, Humm A, Huber R . The ligand-induced structural changes of human L-Arginine:Glycine amidinotransferase. A mutational and crystallographic study . J. Biol. Chem. . 274 . 5 . 3026–32 . 1999 . 9915841 . 10.1074/jbc.274.5.3026 . free .
• Item CB . Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans . Am. J. Hum. Genet. . 69 . 5 . 1127–33 . 2001 . 11555793 . 10.1086/323765 . 1274356 . Stöckler-Ipsiroglu S . Stromberger C . 3 . Muhl . A . Alessandri . M . Bianchi . M . Tosetti . M . Fornai . F . Cioni . G .
• Carducci C . 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 . 2002 . 12324495 . Birarelli M . Leuzzi V . 3 . Carducci . C . Battini . R . Cioni . G . Antonozzi . I . 10.1093/clinchem/48.10.1772 . free .
• Battini R . Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree . Mol. Genet. Metab. . 77 . 4 . 326–31 . 2003 . 12468279 . 10.1016/S1096-7192(02)00175-0 . Leuzzi V . Carducci C . 3 . Tosetti . M . Bianchi . MC . Item . CB . Stöckler-Ipsiroglu . S . Cioni . G .
• Strausberg RL . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . Feingold EA . Grouse LH . 3 . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Verhoeven NM . Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency . Clin. Chem. . 49 . 5 . 803–5 . 2003 . 12709373 . 10.1373/49.5.803 . Schor DS . Roos B . 3 . Battini . R . Stöckler-Ipsiroglu . S . Salomons . GS . Jakobs . C . free .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . Suzuki Y . Nishikawa T . 3 . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Gerhard DS . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . Wagner L . Feingold EA . 3 . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Alessandrì MG . Gas chromatography/mass spectrometry assay for arginine: glycine-amidinotransferase deficiency . Anal. Biochem. . 343 . 2 . 356–8 . 2005 . 15978539 . 10.1016/j.ab.2005.05.003 . Celati L . Battini R . 3 . Casarano . Manuela . Cioni . Giovanni .

External links

• GeneReviews/NCBI/NIH/UW entry on Creatine Deficiency Syndromes

Notes and References

1. Humm A, Huber R, Mann K . The amino acid sequences of human and pig L-arginine:glycine amidinotransferase . FEBS Lett . 339 . 1–2 . 101–7 . Mar 1994 . 8313955 . 10.1016/0014-5793(94)80394-3 . 41884725 .
2. Web site: Entrez Gene: GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase).