ABCC9 - ATP-binding cassette sub-family C member 9 - human protein (Medical)
 
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ABCC9 »  ATP-binding cassette sub-family C member 9
 
Protein also known as:  Sulfonylurea receptor 2.
Gene name:  ABCC9
Entry whose protein(s) existence is based on evidence at protein level
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1 41 2
GENE REF ISO

Displayed isoform: SUR2A     

 
 

Medical

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Disease 
Cardiomyopathy, dilated 1O (CMD1O) [MIM:608569]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by mutations affecting the gene represented in this entry.  
1
  • CuratedUniProtKB
Atrial fibrillation, familial, 12 (ATFB12) [MIM:614050]: 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. The disease is caused by mutations affecting the gene represented in this entry.  
1
  • CuratedUniProtKB
Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850]: 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. The disease is caused by mutations affecting the gene represented in this entry.  
2
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Acromegaloid facial appearance syndrome  965  
Familial atrial fibrillation  334  
Familial isolated dilated cardiomyopathy  154  
Hypertrichosis-acromegaloid facial appearence syndrome  966  
Hypertrichotic osteochondrodysplasia, Cantu type  1517  
Pharmaceutical 
According to DrugBank, this protein binds/interacts with the following drugs:
Adenosine triphosphate  DB00171  
Glibenclamide  DB01016  
 

Keywords

Disease 
Atrial fibrillation  definition   [KW-1020]
Cardiomyopathy  definition   [KW-0122]
Disease mutation  definition   [KW-0225]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

CTD: 10060
GeneReviews: ABCC9
MIM: 239850
MIM: 614050
MIM: 608569
PharmGKB: PA396
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.