KCNQ

KCNQ is a family of genes that encode a type of potassium channel. These channels are important for the normal functioning of the nervous system and the heart. Mutations in these genes can lead to a variety of medical conditions, including epilepsy and cardiac arrhythmias.

Function

The KCNQ family of genes encode proteins that form potassium channels. These channels allow potassium ions to flow out of cells, which is important for maintaining the electrical charge of the cell membrane. This is particularly important in nerve cells and heart muscle cells, where changes in the electrical charge of the cell membrane are used to transmit signals.

Structure

The proteins encoded by the KCNQ genes have six membrane-spanning domains, with a pore loop between the fifth and sixth domains. This pore loop forms the actual channel through which potassium ions can flow. The proteins can form channels on their own, or they can combine with other proteins to form channels with different properties.

Clinical significance

Mutations in the KCNQ genes can lead to a variety of medical conditions. For example, mutations in KCNQ2 and KCNQ3 can cause benign familial neonatal seizures, a type of epilepsy that occurs in newborns. Mutations in KCNQ1 can cause long QT syndrome, a cardiac arrhythmia that can lead to sudden death.

See also

• Potassium channel
• Epilepsy
• Cardiac arrhythmia
• Long QT syndrome

References

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