GATM (gene)


GATM (gene)

Glycine amidinotransferase (L-arginine:glycine amidinotransferase), also known as GATM, is a human gene.cite web | title = Entrez Gene: GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2628| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2628| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Humm A, Fritsche E, Steinbacher S |title=Structure and reaction mechanism of L-arginine:glycine amidinotransferase. |journal=Biol. Chem. |volume=378 |issue= 3-4 |pages= 193–7 |year= 1997 |pmid= 9165070 |doi=
*cite journal | author=Schulze A |title=Creatine deficiency syndromes. |journal=Mol. Cell. Biochem. |volume=244 |issue= 1-2 |pages= 143–50 |year= 2003 |pmid= 12701824 |doi=
*cite journal | author=Gross MD, Eggen MA, Simon AM, Van Pilsum JF |title=The purification and characterization of human kidney L-arginine:glycine amidinotransferase. |journal=Arch. Biochem. Biophys. |volume=251 |issue= 2 |pages= 747–55 |year= 1987 |pmid= 3800397 |doi=
*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Humm A, Huber R, Mann K |title=The amino acid sequences of human and pig L-arginine:glycine amidinotransferase. |journal=FEBS Lett. |volume=339 |issue= 1-2 |pages= 101–7 |year= 1994 |pmid= 8313955 |doi=
*cite journal | author=Humm A, Fritsche E, Mann K, "et al." |title=Recombinant expression and isolation of human L-arginine:glycine amidinotransferase and identification of its active-site cysteine residue. |journal=Biochem. J. |volume=322 ( Pt 3) |issue= |pages= 771–6 |year= 1997 |pmid= 9148748 |doi=
*cite journal | author=Humm A, Fritsche E, Steinbacher S, Huber R |title=Crystal structure and mechanism of human L-arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis. |journal=EMBO J. |volume=16 |issue= 12 |pages= 3373–85 |year= 1997 |pmid= 9218780 |doi= 10.1093/emboj/16.12.3373
*cite journal | author=Fritsche E, Humm A, Huber R |title=Substrate binding and catalysis by L-arginine:glycine amidinotransferase--a mutagenesis and crystallographic study. |journal=Eur. J. Biochem. |volume=247 |issue= 2 |pages= 483–90 |year= 1997 |pmid= 9266688 |doi=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=
*cite journal | author=Fritsche E, Humm A, Huber R |title=The ligand-induced structural changes of human L-Arginine:Glycine amidinotransferase. A mutational and crystallographic study. |journal=J. Biol. Chem. |volume=274 |issue= 5 |pages= 3026–32 |year= 1999 |pmid= 9915841 |doi=
*cite journal | author=Item CB, Stöckler-Ipsiroglu S, Stromberger C, "et al." |title=Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. |journal=Am. J. Hum. Genet. |volume=69 |issue= 5 |pages= 1127–33 |year= 2001 |pmid= 11555793 |doi=
*cite journal | author=Carducci C, Birarelli M, Leuzzi V, "et al." |title=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. |journal=Clin. Chem. |volume=48 |issue= 10 |pages= 1772–8 |year= 2002 |pmid= 12324495 |doi=
*cite journal | author=Battini R, Leuzzi V, Carducci C, "et al." |title=Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. |journal=Mol. Genet. Metab. |volume=77 |issue= 4 |pages= 326–31 |year= 2003 |pmid= 12468279 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Verhoeven NM, Schor DS, Roos B, "et al." |title=Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency. |journal=Clin. Chem. |volume=49 |issue= 5 |pages= 803–5 |year= 2003 |pmid= 12709373 |doi=
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Alessandrì MG, Celati L, Battini R, "et al." |title=Gas chromatography/mass spectrometry assay for arginine: glycine-amidinotransferase deficiency. |journal=Anal. Biochem. |volume=343 |issue= 2 |pages= 356–8 |year= 2005 |pmid= 15978539 |doi= 10.1016/j.ab.2005.05.003

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