Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR)

Stable Identifier
R-HSA-5619110
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR)
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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 (van de Steeg et al. 2012, Sticova & Jirsa 2013, Keppler 2014).
Literature References
PubMed ID Title Journal Year
24459177 The roles of MRP2, MRP3, OATP1B1, and OATP1B3 in conjugated hyperbilirubinemia

Keppler, D

Drug Metab. Dispos. 2014
24151358 New insights in bilirubin metabolism and their clinical implications

Jirsa, M, Sticová, E

World J. Gastroenterol. 2013
22232210 Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

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

J. Clin. Invest. 2012
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Disease
Name Identifier Synonyms
bilirubin metabolic disorder DOID:2741 hyperbilirubinemia, hereditary hyperbilirubinemia
Authored
Jassal, B  (2014-08-22)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-08-22)
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