PCCB angl Propionyl CoA carboxylase beta subunit bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na 3 j hromosomi 4 Dovzhina polipeptidnogo lancyuga bilka stanovit 539 aminokislot a molekulyarna masa 58 216 5 PCCBIdentifikatoriSimvoliPCCB propionyl CoA carboxylase beta subunit propionyl CoA carboxylase subunit betaZovnishni ID OMIM 232050 MGI 1914154 HomoloGene 447 GeneCards PCCBPov yazani genetichni zahvoryuvannyapropionic acidemia 1 Ontologiya genaMolekulyarna funkciya nucleotide binding ligase activity ATP binding propionyl CoA carboxylase activity CoA carboxylase activity GO 0001948 GO 0016582 protein bindingKlitinna komponenta gialoplazma mitohondrialnij matriks mitohondriyaBiologichnij proces biotin metabolic process fatty acid catabolic process short chain fatty acid catabolic processDzherela Amigo QuickGOOrtologiVidi Lyudina MishaEntrez5096 66904Ensembl ENSG00000114054 ENSMUSG00000032527UniProt P05166 Q99MN9RefSeq mRNK NM 000532NM 001178014NM 025835NM 001311149RefSeq bilok NP 000523NP 001171485NP 001298078NP 080111Lokus UCSC Hr 3 136 25 136 34 MbHr 9 100 86 100 92 MbPubMed search 2 3 VikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050MAAALRVAAVGARLSVLASGLRAAVRSLCSQATSVNERIENKRRTALLGGGQRRIDAQHKRGKLTARERISLLLDPGSFVESDMFVEHRCADFGMAADKNKFPGDSVVTGRGRINGRLVYVFSQDFTVFGGSLSGAHAQKICKIMDQAITVGAPVIGLNDSGGARIQEGVESLAGYADIFLRNVTASGVIPQISLIMGPCAGGAVYSPALTDFTFMVKDTSYLFITGPDVVKSVTNEDVTQEELGGAKTHTTMSGVAHRAFENDVDALCNLRDFFNYLPLSSQDPAPVRECHDPSDRLVPELDTIVPLESTKAYNMVDIIHSVVDEREFFEIMPNYAKNIIVGFARMNGRTVGIVGNQPKVASGCLDINSSVKGARFVRFCDAFNIPLITFVDVPGFLPGTAQEYGGIIRHGAKLLYAFAEATVPKVTVITRKAYGGAYDVMSSKHLCGDTNYAWPTAEIAVMGAKGAVEIIFKGHENVEAAQAEYIEKFANPFPAAVRGFVDDIIQPSSTRARICCDLDVLASKKVQRPWRKHANIPLA 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 funkciyami nalezhit do ligaz fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak acetilyuvannya alternativnij splajsing Bilok maye sajt dlya zv yazuvannya z ATF nukleotidami Lokalizovanij u mitohondriyi Literatura red Lamhonwah A M Leclerc D Loyer M Clarizio R Gravel R A 1994 Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full length cDNA or RNA transcript encoding the propionyl CoA carboxylase beta subunit Genomics 19 500 505 PubMed DOI 10 1006 geno 1994 1099 Ohura T Ogasawara M Ikeda H Narisawa K Tada K 1993 The molecular defect in propionic acidemia exon skipping caused by an 8 bp deletion from an intron in the PCCB allele Hum Genet 92 397 402 PubMed DOI 10 1007 BF01247343 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 Tahara T Kraus J P Rosenberg L E 1990 An unusual insertion deletion in the gene encoding the beta subunit of propionyl CoA carboxylase is a frequent mutation in Caucasian propionic acidemia Proc Natl Acad Sci U S A 87 1372 1376 PubMed DOI 10 1073 pnas 87 4 1372 Tahara T Kraus J P Ohura T Rosenberg L E Fenton W A 1993 Three independent mutations in the same exon of the PCCB gene differences between Caucasian and Japanese propionic acidaemia J Inherit Metab Dis 16 353 360 PubMed DOI 10 1007 BF00710282Primitki red Zahvoryuvannya genetichno pov yazani z PCCB pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 8654 angl Procitovano 18 veresnya 2017 UniProt P05166 angl Arhiv originalu za 8 serpnya 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 PCCB amp oldid 35692246
