Gene: ABCC9

Alternate names for this Gene: ABC37|ATFB12|CANTU|CMD1O|SUR2

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12p12.1

Description of this Gene: ATP binding cassette subfamily C member 9

Type of Gene: protein-coding

Gene: LOC105369689

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs72559751 in ABCC9;LOC105369689 gene and CARDIOMYOPATHY, DILATED, 1O PMID 15034580 2004 ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.