ABCC9

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.

ATP-binding cassette, sub-family C (CFTR/MRP), member 9

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.

Cardiac conduction
Cation transmembrane transport
Defense response to virus
Inorganic cation transmembrane transport
Potassium ion import across plasma membrane
Potassium ion transmembrane transport
Regulation of cardiac conduction
Response to ATP
Transmembrane transport
Transport across blood-brain barrier

Membrane

A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.
A rare disorder characterized by congenital hypertrichosis, neonatal macrosomia, a distinct osteochondrodysplasia, and cardiomegaly. The hypertrichosis leads to thick scalp hair, which extends onto the forehead, and a general increase in body hair. In addition, macrocephaly and coarse facial features, including a broad nasal bridge, epicanthal folds, a wide mouth, and full lips, can be suggestive of a storage disorder. About half of affected individuals are macrosomic and edematous at birth, whereas in childhood they usually have a muscular appearance with little subcutaneous fat. Thickened calvarium, narrow thorax, wide ribs, flattened or ovoid vertebral bodies, coxa valga, osteopenia, enlarged medullary canals, and metaphyseal widening of long bones have been reported. Cardiac manifestations such as patent ductus arteriosus, ventricular hypertrophy, pulmonary hypertension, and pericardial effusions are present in approximately 80% of cases. Motor development is usually delayed due to hypotonia. Most patients have a mild speech delay, and a small percentage have learning difficulties or intellectual disability.

Extracellular: 1-30 aa
Helical: 31-51 aa
Cytoplasmic: 52-72 aa
Helical: 73-93 aa
Extracellular: 94-101 aa
Helical: 102-122 aa
Cytoplasmic: 123-132 aa
Helical: 133-153 aa
Extracellular: 154-167 aa
Helical: 168-188 aa
Cytoplasmic: 189-301 aa
Helical: 302-322 aa
Extracellular: 323-350 aa
Helical: 351-371 aa
Cytoplasmic: 372-423 aa
Helical: 424-444 aa
Extracellular: 445-455 aa
Helical: 456-476 aa
Cytoplasmic: 477-531 aa
Helical: 532-552 aa
Extracellular: 553-571 aa
Helical: 572-592 aa
Cytoplasmic: 593-990 aa
Helical: 991-1011 aa
Extracellular: 1012-1034 aa
Helical: 1035-1055 aa
Cytoplasmic: 1056-1127 aa
Helical: 1128-1148 aa
Extracellular: 1149-1245 aa
Helical: 1246-1266 aa
Cytoplasmic: 1267-1549 aa