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Article

Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1.

Human molecular genetics - 15 Oct 2004

Alvarez Luis, Jara Paloma, Sánchez-Sabaté Elena, Hierro Loreto, Larrauri Javier, Díaz María C, Camarena Carmen, De la Vega Angela, Frauca Esteban, López-Collazo Eduardo, Lapunzina Pablo

Abstract excerpt

Farnesoid X receptor (FXR) is a transcription factor that controls bile acid homeostasis. The phenotype of Fxr null mice is characterized by hypercholanaemia, impaired secretion of bile acids and failure to thrive. Human disorders with these characteristics include FIC1 disease (caused by mutations in ATP8B1, which encodes a putative aminophospholipid translocase, FIC1, whose function in bile handling is unknown)...

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Share to Adenosine Triphosphatases
Share to ATP Binding Cassette Transporter, Subfamily B

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to ATP Binding Cassette Transporter, Subfamily B, Member 11

Share to ATP-Binding Cassette Transporters

Share to Cholestasis, Intrahepatic

Share to Multidrug Resistance-Associated Protein 2

Share to Multidrug Resistance-Associated Proteins

Share to Receptors, Cytoplasmic and Nuclear

Source

Identifiers

PMID: 15317749
DOI: 10.1093/hmg/ddh261

Genes

ABCB11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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