KCND1

KCND1 is a gene that encodes the protein Kv4.1, a voltage-gated potassium channel. This protein is involved in the regulation of the electrical activity of neurons and muscle cells. Mutations in this gene have been associated with various neurological and cardiac disorders.

Function

The protein encoded by the KCND1 gene, Kv4.1, is a member of the voltage-gated potassium channel family. These channels play a crucial role in the electrical excitability of neurons and muscle cells. Kv4.1 is primarily expressed in the brain and heart, where it contributes to the repolarization phase of action potentials.

Clinical significance

Mutations in the KCND1 gene have been linked to several medical conditions. For instance, a specific mutation has been associated with Brugada syndrome, a genetic disorder that can cause life-threatening arrhythmias. Other mutations have been implicated in certain forms of epilepsy and autism spectrum disorder.

Research

Research into the KCND1 gene and its encoded protein, Kv4.1, is ongoing. Understanding the function of this gene and its role in disease could lead to new treatments for a variety of neurological and cardiac disorders.

See also

• Voltage-gated potassium channel
• Brugada syndrome
• Epilepsy
• Autism spectrum disorder

References

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