Defective SLCO1B3 causes hyperbilirubinemia, Rotor type (HBLRR)

Stable Identifier
R-HSA-5619058
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Pathway
Species
Homo sapiens
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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. 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
PubMed ID Title Journal Year
24151358 New insights in bilirubin metabolism and their clinical implications

Sticová, E, Jirsa, M

World J. Gastroenterol. 2013
24459177 The roles of MRP2, MRP3, OATP1B1, and OATP1B3 in conjugated hyperbilirubinemia

Keppler, D

Drug Metab. Dispos. 2014
22232210 Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

van de Steeg, E, Stranecký, V, Hartmannová, H, Nosková, L, Hřebíček, M, Wagenaar, E, van Esch, A, de Waart, DR, Oude Elferink, RP, Kenworthy, KE, Sticová, E, al-Edreesi, M, Knisely, AS, Kmoch, S, Jirsa, M, Schinkel, AH

J. Clin. Invest. 2012
Participants
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Disease
Name Identifier Synonyms
bilirubin metabolic disorder 2741 hyperbilirubinemia, hereditary hyperbilirubinemia
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