ABCB11

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).{{cite web | title = Entrez Gene: ABCB11 | url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8647 | access-date = }}

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.{{cite journal | vauthors = Noé J, Stieger B, Meier PJ | title = Functional expression of the canalicular bile salt export pump of human liver | journal = Gastroenterology | volume = 123 | issue = 5 | pages = 1659–1666 | date = November 2002 | pmid = 12404240 | doi = 10.1053/gast.2002.36587 | doi-access = free }}{{cite journal | vauthors = Arrese M, Ananthanarayanan M | title = The bile salt export pump: molecular properties, function and regulation | journal = Pflügers Archiv | volume = 449 | issue = 2 | pages = 123–131 | date = November 2004 | pmid = 15578267 | doi = 10.1007/s00424-004-1311-4 | hdl-access = free | s2cid = 21771483 | hdl = 10533/175746 }}{{cite journal | vauthors = Stieger B, Meier Y, Meier PJ | title = The bile salt export pump | journal = Pflügers Archiv | volume = 453 | issue = 5 | pages = 611–620 | date = February 2007 | pmid = 17051391 | doi = 10.1007/s00424-006-0152-8 | doi-access = free }}{{cite journal | vauthors = Zinchuk VS, Okada T, Akimaru K, Seguchi H | title = Asynchronous expression and colocalization of Bsep and Mrp2 during development of rat liver | journal = American Journal of Physiology. Gastrointestinal and Liver Physiology | volume = 282 | issue = 3 | pages = G540–G548 | date = March 2002 | pmid = 11842005 | doi = 10.1152/ajpgi.00405.2001 }}

ABCB11 is a gene associated with progressive familial intrahepatic cholestasis type 2 (PFIC2).{{cite journal | vauthors = 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 | display-authors = 6 | title = Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis | journal = Gastroenterology | volume = 117 | issue = 6 | pages = 1370–1379 | date = December 1999 | pmid = 10579978 | doi = 10.1016/S0016-5085(99)70287-8 | doi-access = free }}{{cite journal | vauthors = 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 | display-authors = 6 | title = Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11 | journal = Gastroenterology | volume = 127 | issue = 2 | pages = 379–384 | date = August 2004 | pmid = 15300568 | doi = 10.1053/j.gastro.2004.04.065 | s2cid = 22906105 | doi-access = free }}{{cite journal | vauthors = Noe J, Kullak-Ublick GA, Jochum W, Stieger B, Kerb R, Haberl M, Müllhaupt B, Meier PJ, Pauli-Magnus C | display-authors = 6 | title = Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis | journal = Journal of Hepatology | volume = 43 | issue = 3 | pages = 536–543 | date = September 2005 | pmid = 16039748 | doi = 10.1016/j.jhep.2005.05.020 }} PFIC2 caused by mutations in the ABCB11 gene increases the risk of hepatocellular carcinoma in early life.{{cite journal | vauthors = 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 | display-authors = 6 | title = Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency | journal = Hepatology | volume = 44 | issue = 2 | pages = 478–486 | date = August 2006 | pmid = 16871584 | doi = 10.1002/hep.21287 | s2cid = 22994215 }} Benign recurrent intrahepatic cholestasis (BRIC) is associated with episodic cholestatic jaundice and mutations in ATP8B1 or ABCB11.{{cite journal | vauthors = Kalaranjini KV, Glaxon JA, Vasudevan S, Arunkumar ML | title = Benign recurrent intrahepatic cholestasis - 2 (BRIC-2)/ABCB11 deficiency in a young child - Report from a tertiary care center in South India | journal = Indian Journal of Pathology & Microbiology | volume = 64 | issue = Supplement | pages = S146–S148 | date = June 2021 | pmid = 34135158 | doi = 10.4103/IJPM.IJPM_254_20 | doi-access = free }}

Bile salts from the cytoplasm of hepatocytes are transported by the bile salt export pump (BSEP) into bile canaliculi. When bile salt export is deficient due to mutation in the ABCB11 gene, this can lead to intrahepatic toxic accumulation of the bile salts. Individuals with such mutations have an increased incidence of hepatocellular carcinoma or cholangiocarcinoma.{{cite journal | vauthors = Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerová D, Rayner A, Dutton L, Meier Y, Antoniou A, Stieger B, Arnell H, Ozçay F, Al-Hussaini HF, Bassas AF, Verkade HJ, Fischler B, Németh A, Kotalová R, Shneider BL, Cielecka-Kuszyk J, McClean P, Whitington PF, Sokal E, Jirsa M, Wali SH, Jankowska I, Pawłowska J, Mieli-Vergani G, Knisely AS, Bull LN, Thompson RJ | display-authors = 6 | title = Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families | journal = Gastroenterology | volume = 134 | issue = 4 | pages = 1203–1214 | date = April 2008 | pmid = 18395098 | doi = 10.1053/j.gastro.2008.01.038 | doi-access = free }}

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• {{MeshName|ABCB11+protein,+human}}
• {{UCSC genome browser|ABCB11}}
• {{UCSC gene details|ABCB11}}

{{NLM content}}

{{ABC transporters}}

{{DEFAULTSORT:Abcb11}}