ABCB11
ABCB11| ABCB11 | |||||||||||||||||||||||||
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| 식별자 | |||||||||||||||||||||||||
| 별칭 | ABCB11, ABC16, BRIC2, BSEP, PFIC-2, PFIC2, PGY4, SPGP, ATP 바인딩 카세트 서브 패밀리 B 멤버 11 | ||||||||||||||||||||||||
| 외부 ID | OMIM: 603201 MGI: 1351619 호몰로진: 74509 GeneCard: ABCB11 | ||||||||||||||||||||||||
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| 직교체 | |||||||||||||||||||||||||
| 종 | 인간 | 마우스 | |||||||||||||||||||||||
| 엔트레스 | |||||||||||||||||||||||||
| 앙상블 | |||||||||||||||||||||||||
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| RefSeq(mRNA) | |||||||||||||||||||||||||
| RefSeq(단백질) | |||||||||||||||||||||||||
| 위치(UCSC) | Chr 2: 168.92 – 169.03Mb | Chr 2: 69.24 – 69.34Mb | |||||||||||||||||||||||
| PubMed 검색 | [3] | [4] | |||||||||||||||||||||||
| 위키다타 | |||||||||||||||||||||||||
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ATP 바인딩 카세트, 하위 제품군 B 멤버 11은 ABCB11 유전자로 인코딩되는 단백질이다.[5]
함수
ABCB11 유전자의 산물은 BSEP(Bile salt export pump), 또는 sPgp(P-glycoprotein의 자매)라는 ABC 수송기다. 이 막 관련 단백질은 ATP 결합 카세트(ABC) 트랜스포터의 슈퍼 패밀리의 일원이다. ABC 단백질은 세포내외막을 가로질러 다양한 분자들을 운반한다. ABC 유전자는 7개의 뚜렷한 하위 가족(ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White)[6]으로 나뉜다.
이 단백질은 MDR/TAP 서브패밀리의 일원이다. MDR/TAP 하위 패밀리의 일부 구성원은 다중 약물 저항에 관여한다. 이 특별한 단백질은 간세포(간세포)에서 담즙으로 타우록콜레이트 및 다른 철산 결합체를 운반하는 역할을 한다. 인간에게 있어서 이 트랜스포터의 활동은 담즙 형성과 담즙 흐름의 주요 결정 요인이다.[7][8][9][10]
임상적 유의성
ABCB11은 진행성 가족 내열성 담석증 타입 2(PFIC2)와 연관된 유전자다.[5][11][12][13] ABCB11 유전자의 돌연변이에 의해 야기되는 PFIC2는 어린 시절에 간세포암의 위험을 증가시킨다.[14][15]
참조
- ^ a b c ENSG000073734 GRCh38: 앙상블 릴리스 89: ENSG00000276582, ENSG000073734 - 앙상블, 2017년 5월
- ^ a b c GRCm38: 앙상블 릴리스 89: ENSMUSG000027048 - 앙상블, 2017년 5월
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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 (Nov 1998). "A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis". Nature Genetics. 20 (3): 233–8. doi:10.1038/3034. PMID 9806540. S2CID 21339613.
- ^ "Entrez Gene: ABCB11".
- ^ Noé J, Stieger B, Meier PJ (Nov 2002). "Functional expression of the canalicular bile salt export pump of human liver". Gastroenterology. 123 (5): 1659–66. doi:10.1053/gast.2002.36587. PMID 12404240.
- ^ Arrese M, Ananthanarayanan M (Nov 2004). "The bile salt export pump: molecular properties, function and regulation". Pflügers Archiv. 449 (2): 123–31. doi:10.1007/s00424-004-1311-4. hdl:10533/175746. PMID 15578267. S2CID 21771483.
- ^ Stieger B, Meier Y, Meier PJ (Feb 2007). "The bile salt export pump". Pflügers Archiv. 453 (5): 611–20. doi:10.1007/s00424-006-0152-8. PMID 17051391.
- ^ Zinchuk VS, Okada T, Akimaru K, Seguchi H (Mar 2002). "Asynchronous expression and colocalization of Bsep and Mrp2 during development of rat liver". American Journal of Physiology. Gastrointestinal and Liver Physiology. 282 (3): G540–8. doi:10.1152/ajpgi.00405.2001. PMID 11842005.
- ^ 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 (Dec 1999). "Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis". Gastroenterology. 117 (6): 1370–9. doi:10.1016/S0016-5085(99)70287-8. PMID 10579978.
- ^ 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 (Aug 2004). "Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11". Gastroenterology. 127 (2): 379–84. doi:10.1053/j.gastro.2004.04.065. PMID 15300568. S2CID 22906105.
- ^ Noe J, Kullak-Ublick GA, Jochum W, Stieger B, Kerb R, Haberl M, Müllhaupt B, Meier PJ, Pauli-Magnus C (Sep 2005). "Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis". Journal of Hepatology. 43 (3): 536–43. doi:10.1016/j.jhep.2005.05.020. PMID 16039748.
- ^ 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 (Aug 2006). "Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency". Hepatology. 44 (2): 478–86. doi:10.1002/hep.21287. PMID 16871584. S2CID 22994215.
- ^ Kalaranjini, K. V.; Glaxon, Jinu A.; Vasudevan, Sheela; Arunkumar, M. L. (2021-01-01). "Benign recurrent intrahepatic cholestasis - 2 (BRIC-2)/ABCB11 deficiency in a young child – Report from a tertiary care center in South India". Indian Journal of Pathology and Microbiology. 64 (5): 146. doi:10.4103/IJPM.IJPM_254_20. ISSN 0377-4929.
추가 읽기
- Guey LT, García-Closas M, Murta-Nascimento C, Lloreta J, Palencia L, Kogevinas M, Rothman N, Vellalta G, Calle ML, Marenne G, Tardón A, Carrato A, García-Closas R, Serra C, Silverman DT, Chanock S, Real FX, Malats N (Feb 2010). "Genetic susceptibility to distinct bladder cancer subphenotypes". European Urology. 57 (2): 283–92. doi:10.1016/j.eururo.2009.08.001. PMC 3220186. PMID 19692168.
- Weerachayaphorn J, Cai SY, Soroka CJ, Boyer JL (Nov 2009). "Nuclear factor erythroid 2-related factor 2 is a positive regulator of human bile salt export pump expression". Hepatology. 50 (5): 1588–96. doi:10.1002/hep.23151. PMC 3013376. PMID 19821532.
- Rose CS, Grarup N, Krarup NT, Poulsen P, Wegner L, Nielsen T, Banasik K, Faerch K, Andersen G, Albrechtsen A, Borch-Johnsen K, Clausen JO, Jørgensen T, Vaag A, Pedersen O, Hansen T (Oct 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". Diabetologia. 52 (10): 2122–9. doi:10.1007/s00125-009-1463-z. PMID 19669124.
- Dixon PH, van Mil SW, Chambers J, Strautnieks S, Thompson RJ, Lammert F, Kubitz R, Keitel V, Glantz A, Mattsson LA, Marschall HU, Molokhia M, Moore GE, Linton KJ, Williamson C (Apr 2009). "Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy". Gut. 58 (4): 537–44. doi:10.1136/gut.2008.159541. PMID 18987030. S2CID 206948058.
- Acalovschi M, Tirziu S, Chiorean E, Krawczyk M, Grünhage F, Lammert F (Jun 2009). "Common variants of ABCB4 and ABCB11 and plasma lipid levels: a study in sib pairs with gallstones, and controls". Lipids. 44 (6): 521–6. doi:10.1007/s11745-009-3300-z. PMID 19408031. S2CID 4003830.
- Chen HL, Liu YJ, Su YN, Wang NY, Wu SH, Ni YH, Hsu HY, Wu TC, Chang MH (Dec 2008). "Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography". The Journal of Pediatrics. 153 (6): 825–32. doi:10.1016/j.jpeds.2008.06.034. PMID 18692205.
- Thompson R, Strautnieks S (Nov 2001). "BSEP: function and role in progressive familial intrahepatic cholestasis". Seminars in Liver Disease. 21 (4): 545–50. doi:10.1055/s-2001-19038. PMID 11745042.
- Kim SR, Saito Y, Itoda M, Maekawa K, Kawamoto M, Kamatani N, Ozawa S, Sawada J (2009). "Genetic variations of the ABC transporter gene ABCB11 encoding the human bile salt export pump (BSEP) in a Japanese population". Drug Metabolism and Pharmacokinetics. 24 (3): 277–81. doi:10.2133/dmpk.24.277. PMID 19571440.
- Saito A, Kawamoto M, Kamatani N (Jun 2009). "Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects". Journal of Human Genetics. 54 (6): 317–23. doi:10.1038/jhg.2009.31. PMID 19343046.
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- Lu Y, Dollé ME, Imholz S, van 't Slot R, Verschuren WM, Wijmenga C, Feskens EJ, Boer JM (Dec 2008). "Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations". Journal of Lipid Research. 49 (12): 2582–9. doi:10.1194/jlr.M800232-JLR200. PMID 18660489.
- Byrne JA, Strautnieks SS, Ihrke G, Pagani F, Knisely AS, Linton KJ, Mieli-Vergani G, Thompson RJ (Feb 2009). "Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing". Hepatology. 49 (2): 553–67. doi:10.1002/hep.22683. PMID 19101985. S2CID 9236795.
- Ho RH, Leake BF, Kilkenny DM, Meyer Zu Schwabedissen HE, Glaeser H, Kroetz DL, Kim RB (Jan 2010). "Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability". Pharmacogenetics and Genomics. 20 (1): 45–57. doi:10.1097/FPC.0b013e3283349eb0. PMC 2883163. PMID 20010382.
- Takeuchi F, Katsuya T, Chakrewarthy S, Yamamoto K, Fujioka A, Serizawa M, Fujisawa T, Nakashima E, Ohnaka K, Ikegami H, Sugiyama T, Nabika T, Kasturiratne A, Yamaguchi S, Kono S, Takayanagi R, Yamori Y, Kobayashi S, Ogihara T, de Silva A, Wickremasinghe R, Kato N (Feb 2010). "Common variants at the GCK, GCKR, G6PC2-ABCB11 and MTNR1B loci are associated with fasting glucose in two Asian populations". Diabetologia. 53 (2): 299–308. doi:10.1007/s00125-009-1595-1. PMID 19937311.
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외부 링크
- ABCB11+단백질,+인간, 미국 국립 의학 도서관의 의학 과목 제목(MSH)
- UCSC 게놈 브라우저에서 ABCB11 인간 유전자 위치.
- UCSC 게놈 브라우저의 ABCB11 인간 유전자 세부 정보.
이 기사는 공공영역에 있는 미국 국립 의학 도서관의 텍스트를 통합하고 있다.
- ^ Kalaranjini, K. V.; Glaxon, Jinu A.; Vasudevan, Sheela; Arunkumar, M. L. (2021-01-01). "Benign recurrent intrahepatic cholestasis - 2 (BRIC-2)/ABCB11 deficiency in a young child – Report from a tertiary care center in South India". Indian Journal of Pathology and Microbiology. 64 (5): 146. doi:10.4103/IJPM.IJPM_254_20. ISSN 0377-4929.
