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 Hypertrichotic Osteochondrodysplasia and Atrial Fibrillation, Familial, 12. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Inwardly rectifying K+ channels. GO annotations related to this gene include transporter activity and ion channel binding. An important paralog of this gene is ABCC8.
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.