KCNE3
KCNE3 is a gene that in humans encodes the voltage-gated potassium channel subunit. This gene is also known as MinK-related peptide 2 (MiRP2) and potassium voltage-gated channel subfamily E regulatory subunit 3. The protein encoded by this gene is a member of the KCNE family of potassium channel genes and plays a crucial role in the function of the heart and the nervous system.
Function[edit | edit source]
The KCNE3 gene provides instructions for making a protein that works with other proteins to form potassium channels. These channels, which transport positively charged potassium ions across cell membranes, play a key role in a cell's ability to generate and transmit electrical signals.
Clinical significance[edit | edit source]
Mutations in the KCNE3 gene have been associated with certain medical conditions. For example, they have been linked to Brugada syndrome, a disorder that causes a disruption of the heart's normal rhythm. Additionally, mutations in this gene have been associated with hypokalemic periodic paralysis, a condition that causes episodes of muscle weakness or paralysis.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
