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ABCB11 gene
URL of this page: https://medlineplus.gov/genetics/gene/abcb11/

ABCB11 gene

ATP binding cassette subfamily B member 11

Normal Function

The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP), which is found in the liver. Bile salts are a component of bile that help the body digest fats. Bile salts are produced by liver cells and then transported out of the cell by the BSEP to make bile. The release of bile salts from liver cells is critical for the normal secretion of bile.

Health Conditions Related to Genetic Changes

Benign recurrent intrahepatic cholestasis

Variants (also called mutations) in the ABCB11 gene can cause benign recurrent intrahepatic cholestasis type 2 (BRIC2). Benign recurrent intrahepatic cholestasis is characterized by episodes of liver dysfunction. People with BRIC2 have occasional episodes of impaired bile secretion that lead to severe itching (pruritus) and yellowing of the skin and whites of the eyes (jaundice). On occasion, people with BRIC2 have received a diagnosis for a more severe condition called progressive familial intrahepatic cholestasis type 2 (described below) when their symptoms worsened.

Affected individuals have a variant in both copies of the ABCB11 gene. Variants in the ABCB11 gene that cause BRIC2 lead to a 40 to 50 percent reduction of bile salt transport. The resulting buildup of bile salts in the liver leads to the signs and symptoms of BRIC2. It is unclear what causes the episodes to begin or end.

More About This Health Condition

Progressive familial intrahepatic cholestasis

Many variants in the ABCB11 gene have been found to cause a severe form of liver disease called progressive familial intrahepatic cholestasis type 2 (PFIC2). PFIC2 is a disorder that causes progressive liver disease, which often leads to liver failure. To develop this condition, a person needs to have a disease-causing variant in both copies of the ABCB11 gene. Variants in the ABCB11 gene that cause PFIC2 result in either a significant reduction or a complete absence of bile salt transport out of the liver. This causes bile salts to build up in liver cells, leading to liver disease and its associated signs and symptoms.

Variants that cause the cell to produce short, nonfunctional proteins or no proteins at all tend to be associated with severe liver disease that appears earlier in life. People with no functional BSEP protein also seem to be at a greater risk of developing a type of liver cancer called hepatocellular carcinoma.

More About This Health Condition

Other Names for This Gene

  • ABC16
  • ATP-binding cassette, sub-family B (MDR/TAP), member 11
  • bile salt export pump
  • BRIC2
  • BSEP
  • PFIC2
  • PGY4
  • progressive familial intrahepatic cholestasis 2
  • sister of p-glycoprotein
  • SPGP

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E. Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis. 2009 Jan 8;4:1. doi: 10.1186/1750-1172-4-1. Citation on PubMed or Free article on PubMed Central
  • 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. Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy. Gut. 2009 Apr;58(4):537-44. doi: 10.1136/gut.2008.159541. Epub 2008 Nov 5. Citation on PubMed
  • Geenes V, Williamson C. Intrahepatic cholestasis of pregnancy. World J Gastroenterol. 2009 May 7;15(17):2049-66. doi: 10.3748/wjg.15.2049. Citation on PubMed or Free article on PubMed Central
  • Jansen PL, Sturm E. Genetic cholestasis, causes and consequences for hepatobiliary transport. Liver Int. 2003 Oct;23(5):315-22. doi: 10.1034/j.1478-3231.2003.00856.x. Citation on PubMed
  • Kagawa T, Watanabe N, Mochizuki K, Numari A, Ikeno Y, Itoh J, Tanaka H, Arias IM, Mine T. Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells. Am J Physiol Gastrointest Liver Physiol. 2008 Jan;294(1):G58-67. doi: 10.1152/ajpgi.00367.2007. Epub 2007 Oct 18. Citation on PubMed
  • Lam P, Pearson CL, Soroka CJ, Xu S, Mennone A, Boyer JL. Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases. Am J Physiol Cell Physiol. 2007 Nov;293(5):C1709-16. doi: 10.1152/ajpcell.00327.2007. Epub 2007 Sep 13. Citation on PubMed
  • Lam P, Soroka CJ, Boyer JL. The bile salt export pump: clinical and experimental aspects of genetic and acquired cholestatic liver disease. Semin Liver Dis. 2010 May;30(2):125-33. doi: 10.1055/s-0030-1253222. Epub 2010 Apr 26. Citation on PubMed or Free article on PubMed Central
  • Meier Y, Pauli-Magnus C, Zanger UM, Klein K, Schaeffeler E, Nussler AK, Nussler N, Eichelbaum M, Meier PJ, Stieger B. Interindividual variability of canalicular ATP-binding-cassette (ABC)-transporter expression in human liver. Hepatology. 2006 Jul;44(1):62-74. doi: 10.1002/hep.21214. Citation on PubMed
  • Meier Y, Zodan T, Lang C, Zimmermann R, Kullak-Ublick GA, Meier PJ, Stieger B, Pauli-Magnus C. Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump. World J Gastroenterol. 2008 Jan 7;14(1):38-45. doi: 10.3748/wjg.14.38. Citation on PubMed or Free article on PubMed Central
  • Pauli-Magnus C, Stieger B, Meier Y, Kullak-Ublick GA, Meier PJ. Enterohepatic transport of bile salts and genetics of cholestasis. J Hepatol. 2005 Aug;43(2):342-57. doi: 10.1016/j.jhep.2005.03.017. No abstract available. Citation on PubMed
  • Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Nemeth A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet. 1998 Nov;20(3):233-8. doi: 10.1038/3034. Citation on PubMed
  • Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerova D, Rayner A, Dutton L, Meier Y, Antoniou A, Stieger B, Arnell H, Ozcay F, Al-Hussaini HF, Bassas AF, Verkade HJ, Fischler B, Nemeth A, Kotalova R, Shneider BL, Cielecka-Kuszyk J, McClean P, Whitington PF, Sokal E, Jirsa M, Wali SH, Jankowska I, Pawlowska J, Mieli-Vergani G, Knisely AS, Bull LN, Thompson RJ. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology. 2008 Apr;134(4):1203-14. doi: 10.1053/j.gastro.2008.01.038. Epub 2008 Jan 18. Citation on PubMed
  • Thompson R, Strautnieks S. BSEP: function and role in progressive familial intrahepatic cholestasis. Semin Liver Dis. 2001 Nov;21(4):545-50. doi: 10.1055/s-2001-19038. Citation on PubMed
  • Vallejo M, Briz O, Serrano MA, Monte MJ, Marin JJ. Potential role of trans-inhibition of the bile salt export pump by progesterone metabolites in the etiopathogenesis of intrahepatic cholestasis of pregnancy. J Hepatol. 2006 Jun;44(6):1150-7. doi: 10.1016/j.jhep.2005.09.017. Epub 2005 Nov 7. Citation on PubMed

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