GeneID: 194



Names

Common Name: ABCC2 Type: Gene
Chromosome: 10 (NC_000010.11) Locus: NG_011798.1 (ABCC2)
HUGO Symbol: ABCC2 Full Name: ATP binding cassette subfamily C member 2
Exons: 32 Introns: 31

Description:
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. Polymoprhisms in this gene associated with variable plasma levels of the drug deferasirox in a cohort of β-thalassaemia patients with transfusional iron overload.

Synonyms: DJS , MRP2 , cMRP , ABC30 , CMOAT

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Cusato J, Allegra S, Massano D, De Francia S, Piga A, D'Avolio A, Influence of single-nucleotide polymorphisms on deferasirox C trough levels and effectiveness., Pharmacogenomics J. , 15(3), 263-71, 2015 PubMed
Created on 2016-10-25 17:52:27, Last reviewed on (Show full history)


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