ABCB11

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Protein-coding gene in humans

title: "ABCB11" type: doc version: 1 created: 2026-02-28 author: "Wikipedia contributors" status: active scope: public description: "Protein-coding gene in humans" topic_path: "uncategorized" source: "https://en.wikipedia.org/wiki/ABCB11" license: "CC BY-SA 4.0" wikipedia_page_id: 0 wikipedia_revision_id: 0

::summary Protein-coding gene in humans ::

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 gene.

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).

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.

Clinical significance

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

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.

References

References

  1. (November 1998). "A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis". Nature Genetics.
  2. "Entrez Gene: ABCB11".
  3. (November 2002). "Functional expression of the canalicular bile salt export pump of human liver". Gastroenterology.
  4. (November 2004). "The bile salt export pump: molecular properties, function and regulation". Pflügers Archiv.
  5. (February 2007). "The bile salt export pump". Pflügers Archiv.
  6. (March 2002). "Asynchronous expression and colocalization of Bsep and Mrp2 during development of rat liver". American Journal of Physiology. Gastrointestinal and Liver Physiology.
  7. (December 1999). "Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis". Gastroenterology.
  8. (August 2004). "Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11". Gastroenterology.
  9. (September 2005). "Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis". Journal of Hepatology.
  10. (August 2006). "Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency". Hepatology.
  11. (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.
  12. (April 2008). "Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families". Gastroenterology.

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