Protein-coding gene in the species Homo sapiens
GATM Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1JDW , 1JDX , 2JDW , 2JDX , 3JDW , 4JDW , 5JDW , 6JDW , 7JDW , 8JDW , 9JDW
Identifiers Aliases GATM External IDs OMIM : 602360 MGI : 1914342 HomoloGene : 1136 GeneCards : GATM Wikidata
Glycine amidinotransferase , mitochondrial enzyme that in humans is encoded by the GATM gene .[5] [6]
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.[6]
References [ edit ] Further reading [ edit ]
Humm A, Fritsche E, Steinbacher S (1997). "Structure and reaction mechanism of L-arginine:glycine amidinotransferase". Biol. Chem . 378 (3–4): 193–7. doi :10.1515/bchm.1997.378.3-4.121 . PMID 9165070 . Schulze A (2003). "Creatine deficiency syndromes". Mol. Cell. Biochem . 244 (1–2): 143–50. doi :10.1023/A:1022443503883 . PMID 12701824 . S2CID 25056424 . 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. doi :10.1016/0003-9861(86)90385-1 . 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. doi :10.1016/0378-1119(94)90802-8 . PMID 8125298 . 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 (3): 771–6. doi :10.1042/bj3220771 . PMC 1218254 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 . PMC 1169963 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. doi :10.1111/j.1432-1033.1997.00483.x PMID 9266688 . Suzuki Y, Yoshirtomo-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. doi :10.1016/S0378-1119(97)00411-3 . 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. doi :10.1074/jbc.274.5.3026 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. doi :10.1086/323765 . PMC 1274356 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. doi :10.1093/clinchem/48.10.1772 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. doi :10.1016/S1096-7192(02)00175-0 . 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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 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. doi :10.1373/49.5.803 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 . PMC 528928 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 .
External links [ edit ]
PDB gallery
1jdw : CRYSTAL STRUCTURE AND MECHANISM OF L-ARGININE: GLYCINE AMIDINOTRANSFERASE: A MITOCHONDRIAL ENZYME INVOLVED IN CREATINE BIOSYNTHESIS
1jdx : CRYSTAL STRUCTURE OF HUMAN L-ARGININE:GLYCINE AMIDINOTRANSFERASE IN COMPLEX WITH L-NORVALINE
2jdw : CRYSTAL STRUCTURE AND MECHANISM OF L-ARGININE: GLYCINE AMIDINOTRANSFERASE: A MITOCHONDRIAL ENZYME INVOLVED IN CREATINE BIOSYNTHESIS
2jdx : CRYSTAL STRUCTURE OF HUMAN L-ARGININE:GLYCINE AMIDINOTRANSFERASE, DELETIONMUTANT ATDELTAM302
3jdw : CRYSTAL STRUCTURE AND MECHANISM OF L-ARGININE: GLYCINE AMIDINOTRANSFERASE: A MITOCHONDRIAL ENZYME INVOLVED IN CREATINE BIOSYNTHESIS
4jdw : CRYSTAL STRUCTURE AND MECHANISM OF L-ARGININE: GLYCINE AMIDINOTRANSFERASE: A MITOCHONDRIAL ENZYME INVOLVED IN CREATINE BIOSYNTHESIS
5jdw : CRYSTAL STRUCTURE OF HUMAN L-ARGININE:GLYCINE AMIDINOTRANSFERASE IN COMPLEX WITH GLYCINE
6jdw : CRYSTAL STRUCTURE OF HUMAN L-ARGININE:GLYCINE AMIDINOTRANSFERASE IN COMPLEX WITH GAMMA-AMINO BUTYRIC ACID
7jdw : CRYSTAL STRUCTURE OF HUMAN L-ARGININE:GLYCINE AMIDINOTRANSFERASE IN COMPLEX WITH DELTA-AMINO VALERIC ACID
8jdw : CRYSTAL STRUCTURE OF HUMAN L-ARGININE:GLYCINE AMIDINOTRANSFERASE IN COMPLEX WITH L-ALANINE
9jdw : CRYSTAL STRUCTURE OF HUMAN L-ARGININE:GLYCINE AMIDINOTRANSFERASE IN COMPLEX WITH ALPHA-AMINO BUTYRIC ACID
