Reaction: Defective SLCO1B1 does not transport BIL from extracellular region (blood) to cytosol (hepatocyte)
The solute carrier organic anion transporter family member 1B1 (SLCO1B1) is expressed on the basolateral surfaces of hepatocytes and mediates the uptake of bilirubin (BIL), a breakdown product of heme degradation, to the liver where it is conjugated and excreted from the body. Defects in SLCO1B1 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. Mutations in SLCO1B1 that can cause HBLRR include R580* and R253* (van de Steeg et al. 2012).
Reaction - small molecule participants:
BIL [extracellular region]
Reactome.org reaction link: R-HSA-5661184
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Reaction input - small molecules:
bilirubin(2-)
Reaction output - small molecules:
Reactome.org link: R-HSA-5661184