“GATM (gene)”的意思、由来-开放百科全书

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 glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders.^[2]

References

1. ^{{cite journal |vauthors=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 |date=Mar 1994 | pmid = 8313955 | pmc = | doi =10.1016/0014-5793(94)80394-3 }}
2. ^¹{{cite web | title = Entrez Gene: GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2628| accessdate = }}

Further reading

{{cite journal |vauthors=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= 10.1515/bchm.1997.378.3-4.121 }}

{{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=10.1023/A:1022443503883 }}

{{cite journal |vauthors=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=10.1016/0003-9861(86)90385-1 }}

{{cite journal |vauthors=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=10.1016/0378-1119(94)90802-8 }}

{{cite journal | author=Humm A |title=Recombinant expression and isolation of human L-arginine:glycine amidinotransferase and identification of its active-site cysteine residue |journal=Biochem. J. |volume=322 |issue= 3|pages= 771–6 |year= 1997 |pmid= 9148748 |doi= | pmc=1218254 | author2=Fritsche E | author3=Mann K | display-authors=3 | last4=Göhl | first4=M | last5=Huber | first5=R }}

{{cite journal |vauthors=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 | pmc=1169963 }}

{{cite journal |vauthors=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=10.1111/j.1432-1033.1997.00483.x }}

{{cite journal | author=Suzuki Y |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=10.1016/S0378-1119(97)00411-3 | author2=Yoshirtomo-Nakagawa K | author3=Maruyama K | display-authors=3 | last4=Suyama | first4=A | last5=Sugano | first5=S }}

{{cite journal |vauthors=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=10.1074/jbc.274.5.3026 }}

{{cite journal | author=Item CB |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=10.1086/323765 | pmc=1274356 | author2=Stöckler-Ipsiroglu S | author3=Stromberger C | display-authors=3 | last4=Muhl | first4=A | last5=Alessandri | first5=M | last6=Bianchi | first6=M | last7=Tosetti | first7=M | last8=Fornai | first8=F | last9=Cioni | first9=G }}

{{cite journal | author=Carducci C |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= | author2=Birarelli M | author3=Leuzzi V | display-authors=3 | last4=Carducci | first4=C | last5=Battini | first5=R | last6=Cioni | first6=G | last7=Antonozzi | first7=I }}

{{cite journal | author=Battini R |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=10.1016/S1096-7192(02)00175-0 | author2=Leuzzi V | author3=Carducci C | display-authors=3 | last4=Tosetti | first4=M | last5=Bianchi | first5=MC | last6=Item | first6=CB | last7=Stöckler-Ipsiroglu | first7=S | last8=Cioni | first8=G }}

{{cite journal | author=Strausberg RL |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 | pmc=139241 | author2=Feingold EA | author3=Grouse LH | display-authors=3 | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD }}

{{cite journal | author=Verhoeven NM |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=10.1373/49.5.803 | author2=Schor DS | author3=Roos B | display-authors=3 | last4=Battini | first4=R | last5=Stöckler-Ipsiroglu | first5=S | last6=Salomons | first6=GS | last7=Jakobs | first7=C }}

{{cite journal | author=Ota T |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 | author2=Suzuki Y | author3=Nishikawa T | display-authors=3 | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki }}

{{cite journal | author=Gerhard DS |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 | pmc=528928 | author2=Wagner L | author3=Feingold EA | display-authors=3 | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}

{{cite journal | author=Alessandrì MG |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 | author2=Celati L | author3=Battini R | display-authors=3 | last4=Casarano | first4=Manuela | last5=Cioni | first5=Giovanni }}

References

Further reading

External links