Gene:
ATP-binding cassette, sub-family C (CFTR/MRP), member 12
Gene ID:
205696
Symbol:
ABCC12
Species:
1000
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 ABC full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. It is expressed at low levels in testes, ovary, and prostate tissues. This gene and family member ABCC11 are determined to be derived by duplication and are both localized to chromosome 16q12.1. Their chromosomal localization, potential function, and expression patterns identify them as candidates for paroxysmal kinesigenic choreoathetosis, a disorder characterized by attacks of involuntary movements and postures, chorea, and dystonia. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene but some of their full length sequences are not available.