KCNA5

KCNA5 is a gene that encodes the protein Kv1.5, a voltage-gated potassium channel found in the heart and in smooth muscle cells. Mutations in this gene have been associated with atrial fibrillation and idiopathic pulmonary arterial hypertension.

Function

The KCNA5 gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member 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 encoded protein, a functional channel capable of opening in response to changes in membrane voltage, controls the voltage-dependency of this channel.

Clinical significance

Mutations in the KCNA5 gene have been associated with atrial fibrillation, a common, sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

Mutations in KCNA5 have also been associated with idiopathic pulmonary arterial hypertension, a disease characterized by increased pulmonary vascular resistance leading to right ventricular failure and death. The disease has been associated with mutations in different genes, and it is usually severe and not responsive to therapy.

See also

• Voltage-gated potassium channel
• Atrial fibrillation
• Idiopathic pulmonary arterial hypertension

External links

• KCNA5 at the National Center for Biotechnology Information