KCNJ3
KCNJ3, also known as Potassium Inwardly-Rectifying Channel, Subfamily J, Member 3, is a protein that in humans is encoded by the KCNJ3 gene. It is a member of the G protein-coupled inwardly rectifying potassium channel family (GIRKs), which plays a key role in regulating the electrical activity of cells, particularly neurons and cardiac cells.
Function[edit | edit source]
The KCNJ3 gene encodes a member of the G protein-coupled inwardly rectifying potassium channel family of proteins. These proteins form a type of potassium channel that is active at rest, and allows potassium ions to flow into the cell. This inward flow of potassium ions makes the inside of the cell more negative, which helps to maintain the cell's resting potential and regulate the cell's electrical activity.
Clinical Significance[edit | edit source]
Mutations in the KCNJ3 gene have been associated with several neurological disorders, including familial temporal lobe epilepsy and Andersen-Tawil syndrome. These disorders are characterized by seizures, cardiac arrhythmias, and periodic paralysis.
Structure[edit | edit source]
The KCNJ3 protein is composed of four subunits, each of which has two transmembrane domains and a pore region. The four subunits come together to form a channel through which potassium ions can pass.
See Also[edit | edit source]
- Potassium channel
- G protein-coupled inwardly rectifying potassium channel
- Andersen-Tawil syndrome
- Familial temporal lobe epilepsy
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD