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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 only in the liver. Bile salts are an important component of a digestive fluid called bile, which helps the body break down fats from food. Bile salts are produced by liver cells and then transported out of the cell by the BSEP. They are then combined with other substances to form bile.

Health Conditions Related to Genetic Changes

Benign recurrent intrahepatic cholestasis

Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the ABCB11 gene can cause benign recurrent intrahepatic cholestasis type 2 (BRIC2). Cholestasis is a condition that impairs the release of bile. Benign recurrent intrahepatic cholestasis is characterized by episodes of cholestasis that lead to severe itching (pruritus) and yellowing of the skin and the whites of the eyes (jaundice).

Pathogenic variants in the ABCB11 gene can cause the body to produce BSEP proteins that do not work properly. This impairs the transport of bile salts. A buildup of bile salts can impair liver function, including the regulation of bile flow, and cause cholestasis and the signs and symptoms seen in people with BRIC2.

Many researchers now consider BRIC2 to be a mild version of a form of progressive familial intrahepatic cholestasis (PFIC) called BSEP deficiency (described below).

More About This Health Condition

Progressive familial intrahepatic cholestasis

Pathogenic variants in the ABCB11 gene have been found to cause a form of PFIC called BSEP deficiency (formerly called PFIC2). BSEP deficiency is a disorder that causes chronic, progressive liver disease, which often leads to liver failure. The pathogenic variants in the ABCB11 gene that cause BSEP deficiency typically reduce or eliminate bile salt transport out of the liver. This leads to a buildup of bile salts, which impairs liver function and leads to the signs and symptoms of BSEP deficiency.

Pathogenic variants that cause the cell to produce short, nonfunctional versions of proteins or no proteins at all tend to be associated with more severe liver disease that appears earlier in life. People with BSEP deficiency who have no functional BSEP proteins also seem to be at a greater risk of developing a type of liver cancer called hepatocellular carcinoma (HCC).

More About This Health Condition

Intrahepatic cholestasis of pregnancy

MedlinePlus Genetics provides information about Intrahepatic cholestasis of pregnancy

More About This Health Condition

Other Names for This Gene

  • ABC16
  • PFIC2
  • PGY4
  • 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

  • Baker A, Kerkar N, Todorova L, Kamath BM, Houwen RHJ. Systematic review of progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol. 2019 Feb;43(1):20-36. doi: 10.1016/j.clinre.2018.07.010. Epub 2018 Sep 17. Citation on PubMed
  • Bull LN, Thompson RJ. Progressive Familial Intrahepatic Cholestasis. Clin Liver Dis. 2018 Nov;22(4):657-669. doi: 10.1016/j.cld.2018.06.003. Epub 2018 Aug 3. Citation on PubMed
  • 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
  • Hassan S, Hertel P. Overview of Progressive Familial Intrahepatic Cholestasis. Clin Liver Dis. 2022 Aug;26(3):371-390. doi: 10.1016/j.cld.2022.03.003. Citation on PubMed
  • 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
  • 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
  • Vitale G, Sciveres M, Mandato C, d'Adamo AP, Di Giorgio A. Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review. Orphanet J Rare Dis. 2025 Feb 21;20(1):80. doi: 10.1186/s13023-025-03599-2. Citation on PubMed
  • Xie S, Wei S, Ma X, Wang R, He T, Zhang Z, Yang J, Wang J, Chang L, Jing M, Li H, Zhou X, Zhao Y. Genetic alterations and molecular mechanisms underlying hereditary intrahepatic cholestasis. Front Pharmacol. 2023 May 31;14:1173542. doi: 10.3389/fphar.2023.1173542. eCollection 2023. Citation on PubMed
  • Zollner J, Williamson C, Dixon PH. Genetic issues in ICP. Obstet Med. 2024 Sep;17(3):157-161. doi: 10.1177/1753495X241263441. Epub 2024 Jul 26. Citation on PubMed

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