KCNC3

KCNC3 is a gene that encodes a voltage-gated potassium channel in humans. This channel is known to be involved in the regulation of the electrical excitability of neurons. Mutations in this gene have been associated with spinocerebellar ataxia type 13 and episodic ataxia type 1.

Function

The KCNC3 gene encodes a member of the potassium channel, voltage-gated, Shaw-related subfamily. This member is a type of potassium channel that contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. The KCNC3 gene is primarily expressed in the brain.

Clinical significance

Mutations in the KCNC3 gene have been associated with neurological disorders such as spinocerebellar ataxia type 13 (SCA13) and episodic ataxia type 1 (EA1). SCA13 is a rare, autosomal dominant disorder characterized by slowly progressive cerebellar ataxia and variable neurologic features, including dysarthria, oculomotor disturbances, and cognitive impairment. EA1 is characterized by brief episodes of ataxia and dysarthria, often triggered by stress, startle, or heavy physical activity.

See also

• Voltage-gated potassium channel
• Spinocerebellar ataxia
• Episodic ataxia

External links

• KCNC3 at the National Center for Biotechnology Information