KCNB1

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KCNB1 is a gene that encodes the potassium voltage-gated channel subfamily B member 1 protein, also known as Kv2.1. This protein is a crucial component of the voltage-gated potassium channels, which are essential for the proper functioning of neurons and other excitable cells.

Function

The KCNB1 gene product, Kv2.1, is a delayed rectifier potassium channel. It plays a significant role in repolarizing the membrane potential after an action potential, thereby regulating neuronal excitability and firing patterns. Kv2.1 channels are widely expressed in the central nervous system, particularly in the cortex, hippocampus, and cerebellum.

Structure

Kv2.1 is a tetrameric protein, meaning it forms a functional channel by assembling four subunits. Each subunit consists of six transmembrane segments (S1-S6) with a pore loop between S5 and S6 that forms the ion-conducting pore. The S4 segment acts as the voltage sensor, responding to changes in membrane potential to open or close the channel.

Clinical Significance

Mutations in the KCNB1 gene have been associated with various neurological disorders, including epilepsy, intellectual disability, and autism spectrum disorder. These mutations can lead to either gain-of-function or loss-of-function effects, disrupting the normal electrical activity of neurons.

Research

Ongoing research is focused on understanding the precise mechanisms by which KCNB1 mutations lead to neurological disorders. Animal models and electrophysiological studies are commonly used to investigate the functional consequences of these mutations.

See Also

• Voltage-gated potassium channel
• Neuronal excitability
• Action potential
• Epilepsy
• Autism spectrum disorder

External Links

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