KCNC4

KCNC4 is a gene that encodes a voltage-gated potassium channel protein in humans. This protein, also known as Kv3.4, is part of the Kv3 family of potassium channels, which are known for their high voltage activation and fast deactivation kinetics.

Function

The protein encoded by the KCNC4 gene is a voltage-gated potassium channel subunit. Potassium channels are essential for the normal functioning of cardiac, neuronal, and muscular cells, among others. They play a key role in shaping the action potential of nerve cells and regulating the flow of potassium ions across the cell membrane.

Clinical Significance

Mutations in the KCNC4 gene have been associated with certain medical conditions. For instance, a mutation in this gene has been linked to episodic ataxia, a rare, genetically inherited neurological disorder characterized by episodes of poor coordination and balance (ataxia).

Research

Research into the KCNC4 gene and its encoded protein is ongoing, with scientists seeking to better understand its functions and the effects of its mutations. This research could potentially lead to new treatments for diseases associated with this gene.

See Also

• Potassium channel
• Episodic ataxia
• Gene
• Protein

References

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