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DrugBank target: O60706

DrugBank target: O60706 (ABCC9_HUMAN)     

ATP-binding cassette sub-family C member 9

Sulfonylurea receptor 2.

Function

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..

Disease(s)

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. Note=The disease is caused by mutations affecting the gene represented in this entry.
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. Note=The disease is caused by mutations affecting the gene represented in this entry.
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. Note=The disease is caused by mutations affecting the gene represented in this entry.

Structures

There are currently no structures for this UniProt code in the PDB.

Schematic diagram of Pfam domains in target sequence

Key:    PfamA domain

Sequence length: 1549 a.a.

Approved drugs / nutraceuticals targeting this protein

The DrugBank database identifies 1 drug and and 1 nutraceutical for this target protein:

 

Generic name: DB00171 adenosine triphosphate
ATP
Formula: C10H16N5O13P3
Structure: There are 817 PDB structures containing this molecule although none are bound to the above target protein.
 
Generic name: DB01016 glyburide
Formula: C23H28Cln3O5S
Structure: There are no structures of this molecule in the PDB.

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