KCNJ18

KCNJ18 is a gene that encodes the protein Kir2.6 in humans. This protein is a member of the inward rectifier-type potassium channel family, which is characterized by a greater tendency to allow potassium to flow into a cell rather than out of it. Its main function is to stabilize the resting membrane potential and control the duration of the action potential in muscle cells, including those in the heart and the skeletal system.

Function

The protein encoded by the KCNJ18 gene, Kir2.6, belongs to the inward rectifier-type potassium channel family. This type of potassium channel is known for its tendency to allow potassium to flow into the cell rather than out of it. The function of this gene is not yet fully understood, but it is believed to play a crucial role in stabilizing the resting membrane potential and controlling the duration of the action potential in muscle cells. This includes cells in the heart and the skeletal system.

Clinical significance

Mutations in the KCNJ18 gene have been associated with thyrotoxic hypokalemic periodic paralysis (THPP2), a condition that causes episodes of muscle weakness or paralysis. This condition is often triggered by factors such as stress, heavy alcohol consumption, high carbohydrate meals, or certain medications.

See also

• Inward rectifier potassium ion channels
• Thyrotoxic hypokalemic periodic paralysis

External links

• KCNJ18 at the National Center for Biotechnology Information

KCNJ18 Resources
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