KCND3

KCND3 is a gene that encodes the protein Kv4.3, 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 several neurological and cardiac disorders.

Function

The KCND3 gene provides instructions for making a protein called Kv4.3. This protein forms a channel that transports positively charged atoms (ions) of potassium out of cells. In nerve cells (neurons) and muscle cells, these potassium channels play a key role in the cell's ability to generate and transmit electrical signals.

Clinical significance

Mutations in the KCND3 gene have been associated with a variety of neurological and cardiac disorders. These include spinocerebellar ataxia type 19 (SCA19), a condition characterized by problems with movement and balance (ataxia); and Brugada syndrome, a condition that disrupts the normal rhythm of the heart.

Research

Research into the KCND3 gene and its associated protein is ongoing. Scientists are particularly interested in understanding how mutations in this gene lead to the symptoms of the disorders with which it is associated. This research may lead to new treatments for these conditions.

See also

• Voltage-gated potassium channel
• Spinocerebellar ataxia
• Brugada syndrome

References

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