KCNAB2
KCNAB2 is a gene that encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits.
Function[edit | edit source]
The KCNAB2 gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. These proteins function as voltage-gated potassium channels, which are integral membrane proteins that open or close in response to changes in the voltage across the plasma membrane.
The encoded protein forms a heteromultimeric complex with Kv-alpha subunits, which regulates the function of these channels. This protein also interacts with the Kv-beta subunits, and it may increase the current amplitude of the potassium channel with which it interacts.
Clinical Significance[edit | edit source]
Mutations in the KCNAB2 gene have been associated with episodic ataxia, a neurological condition characterized by episodes of poor coordination and balance (ataxia).
See Also[edit | edit source]
References[edit | edit source]
External Links[edit | edit source]
- KCNAB2 at the National Center for Biotechnology Information
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Contributors: Prab R. Tumpati, MD
