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. Mutations causing DJS include I1173F, R1150H, R768W and R1066* (Mar-Cohen et al. 2001, Wada et al. 1998, Pacifico et al. 2010).
Pacifico, L, Carducci, C, Poggiogalle, E, Caravona, F, Antonozzi, I, Chiesa, C, Maggiore, G
Mor-Cohen, R, Zivelin, A, Rosenberg, N, Shani, M, Muallem, S, Seligsohn, U
Wada, M, Toh, S, Taniguchi, K, Nakamura, T, Uchiumi, T, Kohno, K, Yoshida, I, Kimura, A, Sakisaka, S, Adachi, Y, Kuwano, M
bilirubin transmembrane transporter activity of ABCC2 mutants [plasma membrane]
Loss of function of ABCC2 mutants [plasma membrane]
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