The bile salt export pump, ABCB11, selectively expressed in the hepatocytes, mediates the transport of monovalent bile salts into the bile. Mutations and polymorphisms in ABCB11 may lead to various forms of cholestatic liver diseases ranging from milder symptoms to lethal conditions. Similarly, inborn errors in ABCC6, another hepatic ABC transporter, may result in diverse conditions, which are characterized by soft tissue mineralization. In this chapter we review the recent knowledge on the structure, transport function, tissue distribution, transcriptional and posttranscriptional regulation, as well as the physiological and pathophysiological role of these medically important hepatic transporters. Substantial data on the pathomechanisms of the diseases associated with the dysfunction of these hepatic transporters have been accumulated in the recent years. This knowledge allows novel, mutation-specific therapeutic interventions opening a new perspective for the treatment of these diseases.
- Cellular localization
- Functional correction
ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)
- Pharmacology, Toxicology and Pharmaceutics(all)