- Human pathology

Home > A. Molecular pathology > ABCB11


Wednesday 4 June 2003

Canalicular bile acide transporte ABCB11, BSEP


- BSEP/ABCB11 germline mutations in

  • progressive familial intrahepatic cholestasis type 2 (PFIC2) (MIM.601847)
  • benign recurrent intrahepatic cholestasis type 2 (BRIC2) (MIM.605479)
    • Benign recurrent intrahepatic cholestasis (BRIC) is characterized by intermittent episodes of cholestasis without progression to liver failure.
    • The cholestatic attacks vary in severity and duration and patients are asymptomatic between episodes, both clinically and biochemically


- BSEP and MDR3 are useful Immunohistochemical Markers to Discriminate Hepatocellular Carcinomas From Intrahepatic Cholangiocarcinomas and Hepatoid Carcinomas. (26735860)

See also


  • ABCB4


- Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis. Treepongkaruna S, Gaensan A, Pienvichit P, Luksan O, Knisely AS, Sornmayura P, Jirsa M. World J Gastroenterol. 2009 Sep 14;15(34):4339-42. PMID: 19750581

- Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing. Byrne JA, Strautnieks SS, Ihrke G, Pagani F, Knisely AS, Linton KJ, Mieli-Vergani G, Thompson RJ. Hepatology. 2009 Feb;49(2):553-67. PMID: 19101985