Aminokislinska sekvenca
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Dužina polipeptidnog lanca je 423 aminokiseline , a molekulska težina
48.455 Da .[3]
10 20 30 40 50 MLRVRCLRGG SRGAEAVHYI GSRLGRTLTG WVQRTFQSTQ AATASSRNSC AADDKATEPL PKDCPVSSYN EWDPLEEVIV GRAENACVPP FTIEVKANTY EKYWPFYQKQ GGHYFPKDHL KKAVAEIEEM CNILKTEGVT VRRPDPIDWS LKYKTPDFES TGLYSAMPRD ILIVVGNEII EAPMAWRSRF FEYRAYRSII KDYFHRGAKW TTAPKPTMAD ELYNQDYPIH SVEDRHKLAA QGKFVTTEFE PCFDAADFIR AGRDIFAQRS QVTNYLGIEW MRRHLAPDYR VHIISFKDPN PMHIDATFNI IGPGIVLSNP DRPCHQIDLF KKAGWTIITP PTPIIPDDHP LWMSSKWLSM NVLMLDEKRV MVDANEVPIQ KMFEKLGITT IKVNIRNANS LGGGFHCWTC DVRRRGTLQS YLD
Simboli Dopunska literatura
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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 . 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. 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. 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 .
Vanjski linkovi
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