HGD angl Homogentisate 1 2 dioxygenase bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na 3 j hromosomi 4 Dovzhina polipeptidnogo lancyuga bilka stanovit 445 aminokislot a molekulyarna masa 49 964 5 HGDNayavni strukturiPDBPoshuk ortologiv PDBe RCSBSpisok kodiv PDB1EYB 1EY2IdentifikatoriSimvoliHGD AKU HGO homogentisate 1 2 dioxygenaseZovnishni ID OMIM 607474 MGI 96078 HomoloGene 156 GeneCards HGDPov yazani genetichni zahvoryuvannyaalkaptonuria 1 Ontologiya genaMolekulyarna funkciya oxidoreductase activity GO 0001948 GO 0016582 protein binding dioxygenase activity zv yazuvannya z ionom metalu homogentisate 1 2 dioxygenase activity identical protein bindingKlitinna komponenta gialoplazma ekzosomaBiologichnij proces tyrosine metabolic process cellular amino acid metabolic process L phenylalanine catabolic process tyrosine catabolic processDzherela Amigo QuickGOOrtologiVidi Lyudina MishaEntrez3081 15233Ensembl ENSG00000113924 ENSMUSG00000022821UniProt Q93099 O09173RefSeq mRNK NM 000187NM 013547RefSeq bilok NP 000178NP 038575Lokus UCSC Hr 3 120 63 120 68 MbHr 16 37 4 37 45 MbPubMed search 2 3 VikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSWLYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLCGAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEICVIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVPGGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTVLTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPGGGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLDENYHKCWEPLKSHFTPNSRNPAEPNA Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyeyu nalezhit do oksidoreduktaz Zadiyanij u takomu biologichnomu procesi yak acetilyuvannya Bilok maye sajt dlya zv yazuvannya z ionami metaliv ionom zaliza Literatura red Granadino B Beltran Valero de Bernabe D Fernandez Canon J M Penalva M A Rodriguez de Cordoba S 1997 The human homogentisate 1 2 dioxygenase HGO gene Genomics 43 115 122 PubMed DOI 10 1006 geno 1997 4805 The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 2121 2127 2004 PubMed DOI 10 1101 gr 2596504 Beltran Valero de Bernabe D Jimenez F J Aquaron R Rodriguez de Cordoba S 1999 Analysis of alkaptonuria AKU mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1 2 dioxygenase gene HGO Am J Hum Genet 64 1316 1322 PubMed DOI 10 1086 302376 Felbor U Mutsch Y Grehn F Mueller C R Kress W 1999 Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1 2 dioxygenase gene Br J Ophthalmol 83 680 683 PubMed DOI 10 1136 bjo 83 6 680 Al sbou M 2012 Novel mutations in the homogentisate 1 2 dioxygenase gene identified in Jordanian patients with alkaptonuria Rheumatol Int 32 1741 1746 PubMed DOI 10 1007 s00296 011 1868 0Primitki red Zahvoryuvannya genetichno pov yazani z HGD pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 4892 angl Procitovano 18 veresnya 2017 UniProt Q93099 angl Arhiv originalu za 26 lyutogo 2017 Procitovano 18 veresnya 2017 Div takozh red Hromosoma 3 nbsp Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi Otrimano z https uk wikipedia org w index php title HGD amp oldid 38963322
