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
Number of entries/variants: 1
Publications / Origin
- 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