Reactome: A Curated Pathway Database

Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR)

Stable Identifier
R-HSA-5619058
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
Summation

The bile acids glycocholate (GCCA) or taurocholate (TCCA) can be transported into the cytosol by SLCO1B3, which encodes the solute carrier organic anion transporter family member 1B3 (OATP1B3 aka OATP8, SLC21A8). GCCA and TCCA exist in the blood as complexes with serum albumin (ALB), and its uptake by SLCO1B1 must involve disruption of this complex, but the molecular mechanism coupling disruption and uptake is unknown. In the body, SLCO1B1 is expressed on the basolateral surfaces of hepatocytes and may play a role in the uptake of GCCA and TCCA by the liver under physiological conditions. Defects in SLCO1B3 can cause hyperbilirubinemia, Rotor type (HBLRR; MIM:237450), an autosomal recessive form of primary conjugated hyperbilirubinemia. Mild jaundice, not associated with hemolysis, develops shortly after birth or in childhood (van de Steeg et al. 2012, Sticova & Jirsa 2013, Keppler 2014).

Literature References
Participants
Participant Of
Disease
Diseases
Name Identifier Synonyms
bilirubin metabolic disorder 2741 hyperbilirubinemia, hereditary hyperbilirubinemia