Impaired protein maturation of the conjugate export pump multidrug resistance protein 2 as a consequence of a deletion mutation in dubin‐johnson syndrome
Verena Keitel, Jürgen Kartenbeck, Anne T. Nies, Herbert Spring, Manuela Brom, Dietrich Keppler – 30 December 2003 – The Dubin‐Johnson syndrome is an inherited disorder characterized by conjugated hyperbilirubinemia. The deficient hepatobiliary transport of anionic conjugates is caused by the absence of a functional multidrug‐resistance protein 2 (MRP2, symbol ABCC2) from the apical (canalicular) membrane of hepatocytes. Mechanisms underlying this deficiency may include rapid degradation of mutated MRP2 messenger RNA (mRNA) or impaired MRP2 protein maturation and trafficking.