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

Stable Identifier
R-HSA-5679031
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol, extracellular region, plasma membrane
ReviewStatus
5/5
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Defective ABCC2 does not transport BMG,BDG from cytosol to extracellular region
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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

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

J Biol Chem 2001
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
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
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Catalyst Activity

bilirubin transmembrane transporter activity of ABCC2 mutants [plasma membrane]

Physical Entity
ABCC2 mutants [plasma membrane] (Homo sapiens)
Activity
bilirubin transmembrane transporter activity (GO:0015127)
Normal reaction
ABCC2 transports BMG,BDG from cytosol to extracellular region (Homo sapiens)
Functional status

Loss of function of ABCC2 mutants [plasma membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
Dubin-Johnson syndrome DOID:12308 chronic idiopathic jaundice, Dubin Johnson syndrome
Cross References
Mondo
Authored
Jassal, B  (2015-03-02)
Reviewed
Shukla, S  (2015-09-15)
Created
Jassal, B  (2015-03-02)
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