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

Sticová, E, Jirsa, M

World J. Gastroenterol. 2013
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
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Disease
Name Identifier Synonyms
bilirubin metabolic disorder DOID:2741 hyperbilirubinemia, hereditary hyperbilirubinemia
Cross References
Mondo
Authored
Jassal, B  (2014-08-22)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-08-22)
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