Defective ABCC2 causes Dubin-Johnson syndrome

Stable Identifier
R-HSA-5679001
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Pathway
Species
Homo sapiens
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Canalicular multispecific organic anion transporter 1 (ABCC2 aka multidrug resistance-associated protein 2, MRP2), in addition to transporting many organic anions, mediates the ATP-dependent transport of glutathione and glucuronate conjugates from hepatocytes into bile. ABCC2 transports with high affinity and efficiency mono- and di-glucuronated bilirubin into bile. Bilirubin, the end product of heme breakdown, is an important constituent of bile and is responsible for its characteristic colour. Defects in ABCC2 can cause Dubin-Johnson syndrome (DJS; MIM:237500), an autosomal recessive disorder characterised by conjugated hyperbilirubinemia (Dubin & Johnson 1954, Keppler 2014, Erlinger et al. 2014).

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Disease
Name Identifier Synonyms
Dubin-Johnson syndrome 12308 chronic idiopathic jaundice, Dubin Johnson syndrome
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