Kir2.6
(Redirected from KCNJ18)
Kir2.6 is a protein that in humans is encoded by the KCNJ18 gene. It is a member of the Kir (Inwardly rectifying potassium channels) family of proteins, which are integral membrane proteins that control the flow of potassium ions across the cell membrane.
Function
Kir2.6 is a type of potassium channel, specifically an inward-rectifier type potassium channel. This means that it allows potassium ions to move into the cell, but not out of it. This inward flow of potassium ions helps to regulate the electrical activity of the cell, which is crucial for many physiological processes, including the regulation of heart rate and muscle contraction.
Clinical significance
Mutations in the KCNJ18 gene, which encodes Kir2.6, have been associated with thyrotoxic hypokalemic periodic paralysis (THPP), a rare disorder characterized by episodes of muscle weakness and low potassium levels in the blood. These episodes are often triggered by high levels of thyroid hormone in the body.
Research
Research into Kir2.6 and its role in THPP is ongoing. Understanding the function of this protein and how mutations in the KCNJ18 gene affect it could lead to new treatments for this disorder.
See also
References
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WikiMD neurology
External links
- Comprehensive information from the National Institute of health.
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