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]

  • Potassium ion transport
  • Response to ATP
  • Defense response to virus
  • Transmembrane transport
  • Cardiac conduction
  • Cantu syndrome
  • Cardiomyopathy, dilated, 1o
  • Atrial fibrillation, familial, 12
  • Acromegaloid hypertrichosis syndrome
  • Acromegaloid facial appearance syndrome
  • General Cardiomyopathy
  • Dilated Cardiomyopathy
  • General Arrhythmia

Based on Ayass Bioscience, LLC Data Analysis

ABCC9 localizations – Subcellular Localization Database

Gene Location

Pathogenic Prevalence

% 0.102145045965271

Ratio of samples with at least 1 pathogenic variant (Computed from Ayass Bioscience Samples)

Pathogenic Variants

insA=0.00040(5/12518,GO-ESP)
insA=0.0005(2/3854,ALSPAC)
insA=0.0008(3/3708,TWINSUK)