KvLQT3
KvLQT3 is a gene that encodes a protein known as potassium voltage-gated channel subfamily Q member 3. This protein is a member of the voltage-gated potassium channel family, which plays a crucial role in the electrical activity of various cell types, including neurons and muscle cells.
Function[edit | edit source]
The KvLQT3 gene provides instructions for making a protein that forms a channel across the cell membrane. This channel, which is primarily found in the heart, brain, and ear, allows potassium ions to flow out of cells. The movement of potassium ions through these channels is critical for maintaining the normal functions of these organs.
Clinical significance[edit | edit source]
Mutations in the KvLQT3 gene have been associated with several medical conditions. These include long QT syndrome, a disorder of the heart's electrical activity that can cause unpredictable arrhythmias and sudden death. Mutations in this gene can also cause Jervell and Lange-Nielsen syndrome, a severe form of long QT syndrome that is accompanied by profound hearing loss.
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References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD