A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis

Sandra S. Strautnieks, Laura N. Bull, Alexander S. Knisely, Samuel A. Kocoshis, Niklas Dahl, Henrik Arnell, Etienne Sokal, Karine Dahan, Sarah Childs, Victor Ling, M. Stuart Tanner, Amir F. Kagalwalla, Antal Németh, Joanna Pawlowska, Alastair Baker, Giorgina Mieli-Vergani, Nelson B. Freimer, R. Mark Gardiner, Richard J. Thompson*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

779 Scopus citations

Abstract

The progressive familial intrahepatic cholestases (PFIC) are a group of inherited disorders with severe cholestatic liver disease from early infancy. A subgroup characterized by normal serum cholesterol and γ- glutamyltranspeptidase (γGT) levels is genetically heterogeneous with loci on chromosomes 2q (PFIC2) and 18q. The phenotype of the PFIC2-linked group is consistent with defective bile acid transport at the hepatocyte canalicular membrane. The PFIC2 gene has now been identified by mutations in a positional candidate, BSEP, which encodes a liver-specific ATP-binding cassette (ABC) transporter, sister of p-glycoprotein (SPGP). The product of the orthologous rat gene has been shown to be an effective bile acid transporter in vitro. These data provide evidence that SPGP is the human bile salt export pump (BSEP).

Original languageEnglish (US)
Pages (from-to)233-238
Number of pages6
JournalNature Genetics
Volume20
Issue number3
DOIs
StatePublished - 1998

ASJC Scopus subject areas

  • Genetics

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