Defective SLCO1B3 does not transport BIL from extracellular region (blood) to cytosol (hepatocyte)

Stable Identifier
Reaction [transition]
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. 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).

Literature References
PubMed ID Title Journal Year
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
Catalyst Activity

bile acid transmembrane transporter activity of SLCO1B3 I562* [plasma membrane]

Normal reaction
Functional status

Loss of function of SLCO1B3 I562* [plasma membrane]

Name Identifier Synonyms
bilirubin metabolic disorder DOID:2741 hyperbilirubinemia, hereditary hyperbilirubinemia
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