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

Stable Identifier
R-HSA-5679031
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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
21044052 Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome

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

Clin. Genet. 2010
11477083 Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome

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

J Biol Chem 2001
9425227 Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome

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

Hum. Mol. Genet. 1998
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
bilirubin transmembrane transporter activity of ABCC2 mutants [plasma membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
Dubin-Johnson syndrome 12308 chronic idiopathic jaundice, Dubin Johnson syndrome
Authored
Reviewed
Created