KCNK3

KCNK3 is a gene that encodes a member of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has a greater selectivity for potassium over sodium and can be inhibited by certain types of halothane. The protein is expressed in the adult and fetal heart and in pulmonary vein cardiomyocytes.

Function

The KCNK3 gene provides instructions for making a protein that forms potassium channels. These channels, which transport positively charged atoms (ions) of potassium out of cells, play a key role in a cell's ability to generate and transmit electrical signals.

Clinical significance

Mutations in the KCNK3 gene have been associated with pulmonary arterial hypertension, a condition characterized by high blood pressure (hypertension) in the arteries of the lungs (pulmonary arteries). This condition can lead to shortness of breath, fainting, and other symptoms, and it can be life-threatening.

Genetics

The KCNK3 gene is located on the short (p) arm of chromosome 2 at position 24.3. More precisely, the KCNK3 gene is located from base pair 24,235,523 to base pair 24,257,480 on chromosome 2.

See also

• Potassium channel
• Pulmonary arterial hypertension

External links

• KCNK3 at NCBI
• KCNK3 at Genetics Home Reference

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