NP_064693.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
ATP-binding cassette sub-family C member 9 isoform SUR2B
NCBI Official Synonym Full Names
ATP-binding cassette, sub-family C (CFTR/MRP), member 9
NCBI Official Synonym Symbols
SUR2; ABC37; CANTU; CMD1O; ATFB12 [Similar Products]
NCBI Protein Information
ATP-binding cassette sub-family C member 9; ATP-binding cassette transporter sub-family C member 9; sulfonylurea receptor 2
UniProt Protein Name
ATP-binding cassette sub-family C member 9
UniProt Synonym Protein Names
Sulfonylurea receptor 2
UniProt Synonym Gene Names
UniProt Entry Name
ABCC9_HUMAN
NCBI Summary for 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. [provided by RefSeq, Apr 2011]
UniProt Comments for ABCC9
ABCC9: 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. Defects in ABCC9 are the cause of cardiomyopathy dilated type 1O (CMD1O); also known as dilated cardiomyopathy with ventricular tachycardia. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Defects in ABCC9 are the cause of familial atrial fibrillation type 12 (ATFB12). ATFB12 is 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. Defects in ABCC9 are the cause of hypertrichotic osteochondrodysplasia (HTOCD). 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. Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Transporter; Channel, potassium; Transporter, ABC family; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 12p12.1
Cellular Component: voltage-gated potassium channel complex; sarcomere; plasma membrane; ATP-sensitive potassium channel complex; sarcolemma
Molecular Function: potassium channel regulator activity; potassium channel activity; sulfonylurea receptor activity; transporter activity; ATPase activity, coupled to transmembrane movement of substances; ATP binding
Biological Process: synaptic transmission; potassium ion import; metabolic process; signal transduction; defense response to virus; transmembrane transport; potassium ion transport
Disease: Cantu Syndrome; Cardiomyopathy, Dilated, 1o; Atrial Fibrillation, Familial, 12
Research Articles on ABCC9
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Products associated with anti-ABCC9 antibody
Pathways associated with anti-ABCC9 antibody
Diseases associated with anti-ABCC9 antibody
Organs/Tissues associated with anti-ABCC9 antibody
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