Defective ABCC2 does not transport BMG,BDG from cytosol to extracellular region

Stable Identifier
Reaction [transition]
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. Mutations causing DJS include I1173F, R1150H, R768W and R1066* (Mar-Cohen et al. 2001, Wada et al. 1998, Pacifico et al. 2010).

Literature References
PubMed ID Title Journal Year
11477083 Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome

Rosenberg, N, Seligsohn, U, Mor-Cohen, R, Muallem, S, Zivelin, A, Shani, M

J Biol Chem 2001
21044052 Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome

Chiesa, C, Pacifico, L, Antonozzi, I, Caravona, F, Maggiore, G, Poggiogalle, E, Carducci, C

Clin. Genet. 2010
9425227 Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome

Kohno, K, Adachi, Y, Nakamura, T, Kimura, A, Uchiumi, T, Kuwano, M, Toh, S, Yoshida, I, Wada, M, Sakisaka, S, Taniguchi, K

Hum. Mol. Genet. 1998
Catalyst Activity

bilirubin transmembrane transporter activity of ABCC2 mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of ABCC2 mutants [plasma membrane]

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