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ABCB11

ABCB11
Identifiers
AliasesABCB11, ABC16, BRIC2, BSEP, PFIC-2, PFIC2, PGY4, SPGP, ATP binding cassette subfamily B member 11
External IDsOMIM: 603201; MGI: 1351619; HomoloGene: 74509; GeneCards: ABCB11; OMA:ABCB11 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

8647

27413

Ensembl

ENSG00000276582
ENSG00000073734

ENSMUSG00000027048

UniProt

O95342

Q9QY30

RefSeq (mRNA)

NM_003742

NM_021022
NM_001363492

RefSeq (protein)

NP_003733

NP_066302
NP_001350421

Location (UCSC)Chr 2: 168.92 – 169.03 MbChr 2: 69.07 – 69.17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

ATP-binding cassette, sub-family B member 11 (ABCB11), also known as the bile salt export pump (BSEP), is a protein which in humans is encoded by the ABCB11 gene.[5]

Function

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).[6]

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.[7][8][9][10]

Clinical significance

ABCB11 is a gene associated with progressive familial intrahepatic cholestasis type 2 (PFIC2).[5][11][12][13] PFIC2 caused by mutations in the ABCB11 gene increases the risk of hepatocellular carcinoma in early life.[14] Benign recurrent intrahepatic cholestasis (BRIC) is associated with episodic cholestatic jaundice and mutations in ATP8B1 or ABCB11.[15]

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.[16]

References

  1. ^ a b c ENSG00000073734 GRCh38: Ensembl release 89: ENSG00000276582, ENSG00000073734 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027048 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, et al. (November 1998). "A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis". Nature Genetics. 20 (3): 233–238. doi:10.1038/3034. PMID 9806540. S2CID 21339613.
  6. ^ "Entrez Gene: ABCB11".
  7. ^ Noé J, Stieger B, Meier PJ (November 2002). "Functional expression of the canalicular bile salt export pump of human liver". Gastroenterology. 123 (5): 1659–1666. doi:10.1053/gast.2002.36587. PMID 12404240.
  8. ^ Arrese M, Ananthanarayanan M (November 2004). "The bile salt export pump: molecular properties, function and regulation". Pflügers Archiv. 449 (2): 123–131. doi:10.1007/s00424-004-1311-4. hdl:10533/175746. PMID 15578267. S2CID 21771483.
  9. ^ Stieger B, Meier Y, Meier PJ (February 2007). "The bile salt export pump". Pflügers Archiv. 453 (5): 611–620. doi:10.1007/s00424-006-0152-8. PMID 17051391.
  10. ^ Zinchuk VS, Okada T, Akimaru K, Seguchi H (March 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–G548. doi:10.1152/ajpgi.00405.2001. PMID 11842005.
  11. ^ Jansen PL, Strautnieks SS, Jacquemin E, Hadchouel M, Sokal EM, Hooiveld GJ, et al. (December 1999). "Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis". Gastroenterology. 117 (6): 1370–1379. doi:10.1016/S0016-5085(99)70287-8. PMID 10579978.
  12. ^ van Mil SW, van der Woerd WL, van der Brugge G, Sturm E, Jansen PL, Bull LN, et al. (August 2004). "Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11". Gastroenterology. 127 (2): 379–384. doi:10.1053/j.gastro.2004.04.065. PMID 15300568. S2CID 22906105.
  13. ^ Noe J, Kullak-Ublick GA, Jochum W, Stieger B, Kerb R, Haberl M, et al. (September 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): 536–543. doi:10.1016/j.jhep.2005.05.020. PMID 16039748.
  14. ^ Knisely AS, Strautnieks SS, Meier Y, Stieger B, Byrne JA, Portmann BC, et al. (August 2006). "Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency". Hepatology. 44 (2): 478–486. doi:10.1002/hep.21287. PMID 16871584. S2CID 22994215.
  15. ^ Kalaranjini KV, Glaxon JA, Vasudevan S, Arunkumar ML (June 2021). "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 & Microbiology. 64 (Supplement): S146–S148. doi:10.4103/IJPM.IJPM_254_20. PMID 34135158.
  16. ^ Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerová D, Rayner A, Dutton L, et al. (April 2008). "Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families". Gastroenterology. 134 (4): 1203–1214. doi:10.1053/j.gastro.2008.01.038. PMID 18395098.

Further reading

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



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