KCNA3
KCNA3 is a gene that encodes the protein Potassium voltage-gated channel subfamily A member 3. This protein is a member of the potassium channel family of proteins, which are integral membrane proteins that establish the resting membrane potential, shape action potentials, and regulate the frequency of neuronal firing.
Function[edit | edit source]
The KCNA3 protein is a voltage-gated potassium channel that contributes to the regulation of the action potential in neurons. It is activated by changes in the electrical membrane potential and contributes to the repolarization phase of the action potential. This helps to regulate the firing of neurons, which is critical for normal neurological function.
Clinical significance[edit | edit source]
Mutations in the KCNA3 gene have been associated with certain neurological disorders. For example, a mutation in this gene has been linked to Episodic ataxia, a rare, genetically heterogeneous neurological disorder characterized by episodes of ataxia with normal or near-normal neurological function between attacks.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD