Meta-Biol

• Pathways

In the body, solute carrier organic anion transporter family member 1B3 (SLCO1B3) is expressed on the basolateral surfaces of hepatocytes and may play a role in the uptake of bilirubin (BIL), a breakdown product of heme that requires conjugation and excretion from the body. Defects in SLCO1B3 can cause hyperbilirubinemia, Rotor type (HBLRR; MIM:237450), an autosomal recessive form of primary conjugated hyperbilirubinemia. SLCO1B3 mutations that can cause HBLRR are a 7.2-kb deletion, removing exon 12 and causing premature termination of the C-terminal 3 transmembrane domains (not shown here) and I562* (van de Steeg et al. 2012).