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)...
Topics
- ATP Binding Cassette Transporter, Subfamily B
- ATP Binding Cassette Transporter, Subfamily B, Member 11
- ATP-Binding Cassette Transporters
- Adenosine Triphosphatases
- Child
- Child, Preschool
- Cholestasis, Intrahepatic
- DNA-Binding Proteins