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ATP-binding cassette, sub-family B (MDR/TAP), member 11
Symbol ABCB11
Alt. symbols BSEP, PFIC2
Entrez 8647
OMIM 603201
RefSeq NM_003742
UniProt O95342
Other data
Locus Chr. 2 q24

ATP-binding cassette, sub-family B member 11 also known as ABCB11 is a protein which in humans is encoded by the ABCB11 gene.[1]



The product of the ABCB11 gene is an ABC transporter named BSEP (Bile Salt Export Pump), or sPgp (sister of P-glycoprotein). This membrane-associated protein is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).[2]

This protein is a member of the MDR/TAP subfamily. Some members of the MDR/TAP subfamily are involved in multidrug resistance. This particular protein is responsible for the transport of taurocholate and other cholate conjugates from hepatocytes (liver cells) to the bile. In humans, the activity of this transporter is the major determinant of bile formation and bile flow.[3][4][5]

Clinical significance

ABCB11 is a gene associated with progressive familial intrahepatic cholestasis type 2 (PFIC2).[1][6][7][8] PFIC2 caused by mutations in the ABCB11 gene increases the risk of hepatocellular carcinoma in early life.[9]


  1. ^ 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 (November 1998). "A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis". Nat. Genet. 20 (3): 233–8. doi:10.1038/3034. PMID 9806540.  
  2. ^ "Entrez Gene: ABCB11".  
  3. ^ Noé J, Stieger B, Meier PJ (November 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.  
  4. ^ Arrese M, Ananthanarayanan M (November 2004). "The bile salt export pump: molecular properties, function and regulation". Pflugers Arch. 449 (2): 123–31. doi:10.1007/s00424-004-1311-4. PMID 15578267.  
  5. ^ Stieger B, Meier Y, Meier PJ (February 2007). "The bile salt export pump". Pflugers Arch. 453 (5): 611–20. doi:10.1007/s00424-006-0152-8. PMID 17051391.  
  6. ^ 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 (December 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.  
  7. ^ 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 (August 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.  
  8. ^ Noe J, Kullak-Ublick GA, Jochum W, Stieger B, Kerb R, Haberl M, Müllhaupt B, Meier PJ, Pauli-Magnus C (September 2005). "Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis". J. Hepatol. 43 (3): 536–43. doi:10.1016/j.jhep.2005.05.020. PMID 16039748.  
  9. ^ 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 (August 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.  

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.



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