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 Subfamily C Member 9) is a Protein Coding gene. Diseases associated with ABCC9 include Cantu Syndrome and Cardiomyopathy, Dilated, 1O. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include transporter activity and ion channel binding. An important paralog of this gene is ABCC8.
UniProtKB/Swiss-Prot Summary 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.