BSEP: Function and Role in Progressive Familial Intrahepatic Cholestasis

Richard Thompson; Sandra Strautnieks

doi:10.1055/s-2001-19038

Seminars in Liver Disease, Table of Contents

Semin Liver Dis 2001; 21(4): 545-550
DOI: 10.1055/s-2001-19038

BSEP: Function and Role in Progressive Familial Intrahepatic Cholestasis

Richard Thompson, Sandra Strautnieks

Department of Child Health, Guy's, King's, and St. Thomas' School of Medicine, King's College Hospital, London, U.K

Abstract

ABSTRACT

Secretion of bile acids is the major driving force for bile flow in mammals. The recently described adenosine triphosphate (ATP)-dependent bile acid transporter, bile salt export pump (BSEP), formerly called sister of p-glycoprotein, is responsible for active transport of bile acids across the hepatocyte canalicular membrane into bile. It is now recognized that mutations in the gene encoding this protein (ABCB11) are responsible for a subgroup of infants and children with progressive familial cholestasis (PFIC-2), a cholestatic disorder causing extreme pruritus, growth failure, and progression to cirrhosis in the first decade of life. Understanding the structure and function of BSEP has improved our understanding of the mechanisms underlying bile secretion. Determining genotype/phenotype relationships in patients with mutations in this gene are currently ongoing.

KEYWORD

Liver - hepatocyte - hepatobiliary - transport - ABC proteins

Full Text

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