Aliases for ABCC9 Gene
External Ids for ABCC9 Gene
Previous GeneCards Identifiers for ABCC9 Gene
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 thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]
GeneCards Summary for ABCC9 Gene
ABCC9 (ATP-Binding Cassette, Sub-Family C (CFTR/MRP), Member 9) is a Protein Coding gene. Diseases associated with ABCC9 include hypertrichotic osteochondrodysplasia, cantu type and hypertrichotic osteochondrodysplasia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transmission across Chemical Synapses. GO annotations related to this gene include transporter activity and ion channel binding. An important paralog of this gene is ABCC5.
UniProtKB/Swiss-Prot for ABCC9 Gene
Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation.