ABCB11
| editar |
| ATP-binding cassette, sub-family B member 11 | |||
|---|---|---|---|
| Identificadores | |||
| Símbolos | ABCB11; BSEP; SPGP; ABC16; PGY4; PFIC2; BRIC2 | ||
| IDs externos | OMIM: 603201 MGI: 1351619 HomoloGene: 74509 GeneCards: ABCB11 Gene | ||
| Ortólogos | |||
| Espécies | Humano | Rato | |
| Entrez | 8647 | 27413 | |
| Ensembl | ENSG00000073734 | ENSMUSG00000027048 | |
| UniProt | O95342 | Q9QY30 | |
| RefSeq (mRNA) | NM_003742 | NM_021022 | |
| RefSeq (proteína) | NP_003733 | NP_066302 | |
| Localização (UCSC) |
Chr 2: 169.49 – 169.6 Mb |
Chr 2: 69.08 – 69.18 Mb | |
| Busca PubMed | [1] | [2] | |
ABCB11 (do inglês: ATP-binding cassette, sub-family B member 11) é uma proteína codificada pelo gene ABCB11.[1]
Função[editar | editar código-fonte]
O produto do gene ABCB11 é um transportador ABC chamado BSEP (Bile Salt Export Pump) ou sPgp (sister of P-glycoprotein). Esta proteína associada a membrana é um membro da superfamília de transportadores ABC. As proteínas ABC transportam várias moléculas através das membranas intra e extracelulares. Os genes ABC são divididos em sete subfamílias distintas (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).[2]
Esta família é um membro da subfamília MDR/TAP. Alguns membros da subfamília MDR/TAP estão envolvidos na resistência multi-droga. Esta proteína em particular é responsável pelo transporte de ácido taurocólico e de outros conjugados de colato dos hepatócitos para a bílis. Em humanos, a actividade deste transportador é o maior determinante da formação e fluxo da bílis.[3][4][5]
Significância clínica[editar | editar código-fonte]
O gene ABCB11 é um gene associado com a colestase intra-hepática familiar progressiva de tipo 2 (PFIC2).[1][6][7][8] A PFIC2 causada por mutações no gene ABCB11 aumenta o risco de carcinoma hepatocelular durante a fase inicial do desenvolvimento humano.[9]
Referências
- ↑ a b Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Németh A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ (novembro de 1998). «A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis» 3 ed. Nat. Genet. 20: 233–8. PMID 9806540. doi:10.1038/3034
- ↑ «Entrez Gene: ABCB11»
- ↑ Noé J, Stieger B, Meier PJ (novembro de 2002). «Functional expression of the canalicular bile salt export pump of human liver» 5 ed. Gastroenterology. 123: 1659–66. PMID 12404240. doi:10.1053/gast.2002.36587
- ↑ Arrese M, Ananthanarayanan M (novembro de 2004). «The bile salt export pump: molecular properties, function and regulation» 2 ed. Pflugers Arch. 449: 123–31. PMID 15578267. doi:10.1007/s00424-004-1311-4
- ↑ Stieger B, Meier Y, Meier PJ (fevereiro de 2007). «The bile salt export pump» 5 ed. Pflugers Arch. 453: 611–20. PMID 17051391. doi:10.1007/s00424-006-0152-8
- ↑ Jansen PL, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJ, Koning JH, De Jager-Krikken A, Kuipers F, Stellaard F, Bijleveld CM, Gouw A, Van Goor H, Thompson RJ, Müller M (dezembro de 1999). «Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis» 6 ed. Gastroenterology. 117: 1370–9. PMID 10579978. doi:10.1016/S0016-5085(99)70287-8
- ↑ van Mil SW, van der Woerd WL, van der Brugge G, Sturm E, Jansen PL, Bull LN, van den Berg IE, Berger R, Houwen RH, Klomp LW (agosto de 2004). «Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11» 2 ed. Gastroenterology. 127: 379–84. PMID 15300568. doi:10.1053/j.gastro.2004.04.065
- ↑ Noe J, Kullak-Ublick GA, Jochum W, Stieger B, Kerb R, Haberl M, Müllhaupt B, Meier PJ, Pauli-Magnus C (setembro de 2005). «Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis» 3 ed. J. Hepatol. 43: 536–43. PMID 16039748. doi:10.1016/j.jhep.2005.05.020
- ↑ Knisely AS, Strautnieks SS, Meier Y, Stieger B, Byrne JA, Portmann BC, Bull LN, Pawlikowska L, Bilezikçi B, Ozçay F, László A, Tiszlavicz L, Moore L, Raftos J, Arnell H, Fischler B, Németh A, Papadogiannakis N, Cielecka-Kuszyk J, Jankowska I, Pawłowska J, Melín-Aldana H, Emerick KM, Whitington PF, Mieli-Vergani G, Thompson RJ (agosto de 2006). «Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency» 2 ed. Hepatology. 44: 478–86. PMID 16871584. doi:10.1002/hep.21287
Leitura adicional[editar | editar código-fonte]
- Guey LT, Garcia-Closas M, Murta-Nascimento C,; et al. (2010). «Genetic susceptibility to distinct bladder cancer subphenotypes.» 2 ed. Eur. Urol. 57: 283–92. PMID 19692168. doi:10.1016/j.eururo.2009.08.001
- Weerachayaphorn J, Cai SY, Soroka CJ, Boyer JL (2009). «Nuclear factor erythroid 2-related factor 2 is a positive regulator of human bile salt export pump expression.» 5 ed. Hepatology. 50: 1588–96. PMID 19821532. doi:10.1002/hep.23151
- Rose CS, Grarup N, Krarup NT, ; et al. (2009). «A variant in the G6PC2/ABCB11 locus is associated with increased fasting plasma glucose, increased basal hepatic glucose production and increased insulin release after oral and intravenous glucose loads.» 10 ed. Diabetologia. 52: 2122–9. PMID 19669124. doi:10.1007/s00125-009-1463-z
- Dixon PH, van Mil SW, Chambers J, ; et al. (2009). «Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy.» 4 ed. Gut. 58: 537–44. PMID 18987030. doi:10.1136/gut.2008.159541
- Acalovschi M, Tirziu S, Chiorean E, ; et al. (2009). «Common variants of ABCB4 and ABCB11 and plasma lipid levels: a study in sib pairs with gallstones, and controls.» 6 ed. Lipids. 44: 521–6. PMID 19408031. doi:10.1007/s11745-009-3300-z
- Chen HL, Liu YJ, Su YN, ; et al. (2008). «Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography.» 6 ed. J. Pediatr. 153: 825–32. PMID 18692205. doi:10.1016/j.jpeds.2008.06.034
- Thompson R, Strautnieks S (2001). «BSEP: function and role in progressive familial intrahepatic cholestasis.» 4 ed. Semin. Liver Dis. 21: 545–50. PMID 11745042. doi:10.1055/s-2001-19038
- Kim SR, Saito Y, Itoda M, ; et al. (2009). «Genetic variations of the ABC transporter gene ABCB11 encoding the human bile salt export pump (BSEP) in a Japanese population.» 3 ed. Drug Metab. Pharmacokinet. 24: 277–81. PMID 19571440. doi:10.2133/dmpk.24.277
- Saito A, Kawamoto M, Kamatani N (2009). «Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.» 6 ed. J. Hum. Genet. 54: 317–23. PMID 19343046. doi:10.1038/jhg.2009.31
- Hosgood HD, Menashe I, He X, ; et al. (2009). «PTEN identified as important risk factor of chronic obstructive pulmonary disease.» 12 ed. Respir Med. 103: 1866–70. PMC 2783799
. PMID 19625176. doi:10.1016/j.rmed.2009.06.016 - Hosgood HD, Menashe I, Shen M, ; et al. (2008). «Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.» 10 ed. Carcinogenesis. 29: 1938–43. PMC 2722857. PMID 18676680. doi:10.1093/carcin/bgn178
- Ross CJ, Katzov-Eckert H, Dubé MP, ; et al. (2009). «Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy.» 12 ed. Nat. Genet. 41: 1345–9. PMID 19898482. doi:10.1038/ng.478
- Lu Y, Dollé ME, Imholz S, ; et al. (2008). «Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.» 12 ed. J. Lipid Res. 49: 2582–9. PMID 18660489. doi:10.1194/jlr.M800232-JLR200
- Byrne JA, Strautnieks SS, Ihrke G, ; et al. (2009). «Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing.» 2 ed. Hepatology. 49: 553–67. PMID 19101985. doi:10.1002/hep.22683
- Ho RH, Leake BF, Kilkenny DM, ; et al. (2010). «Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability.» 1 ed. Pharmacogenet. Genomics. 20: 45–57. PMC 2883163. PMID 20010382. doi:10.1097/FPC.0b013e3283349eb0
- Takeuchi F, Katsuya T, Chakrewarthy S, ; et al. (2010). «Common variants at the GCK, GCKR, G6PC2-ABCB11 and MTNR1B loci are associated with fasting glucose in two Asian populations.» 2 ed. Diabetologia. 53: 299–308. PMID 19937311. doi:10.1007/s00125-009-1595-1
- Ohno M, Kunimoto M, Nishizuka M, ; et al. (2009). «Ku proteins function as corepressors to regulate farnesoid X receptor-mediated gene expression.» 3 ed. Biochem. Biophys. Res. Commun. 390: 738–42. PMID 19833092. doi:10.1016/j.bbrc.2009.10.040
- Andreotti G, Menashe I, Chen J, ; et al. (2009). «Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China.» 12 ed. Eur. J. Epidemiol. 24: 763–74. PMC 2885778. PMID 19888660. doi:10.1007/s10654-009-9402-3
- Sabatti C, Service SK, Hartikainen AL, ; et al. (2009). «Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.» 1 ed. Nat. Genet. 41: 35–46. PMC 2687077. PMID 19060910. doi:10.1038/ng.271
- Kosters A, Karpen SJ (2008). «Bile acid transporters in health and disease.» 7-8 ed. Xenobiotica. 38: 1043–71. PMC 2823065. PMID 18668439. doi:10.1080/00498250802040584
Ligações externas[editar | editar código-fonte]
Este artigo incorpora texto da United States National Library of Medicine, que está em domínio público.
