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 involved in the regulation of electrical signaling in neurons. It contributes to the repolarization phase of the action potential, which is critical for the proper timing of neuronal firing. Kv2.1 channels are known for their role in maintaining the resting membrane potential and controlling the excitability of neurons.

Structure

Kv2.1 is a transmembrane protein that forms a tetrameric complex. Each subunit of the channel consists of six transmembrane segments (S1-S6) with a pore loop between S5 and S6. The S4 segment acts as the voltage sensor, which responds to changes in membrane potential and triggers the opening or closing of the channel.

Expression

KCNB1 is predominantly expressed in the central nervous system, particularly in the cerebral cortex, hippocampus, and cerebellum. It is also found in other tissues, including the pancreas and heart.

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.

Related Proteins

Kv2.1 is part of the larger family of voltage-gated potassium channels, which includes other subfamilies such as Kv1, Kv3, and Kv4. Each subfamily has distinct physiological roles and expression patterns.

Research

Ongoing research is focused on understanding the precise mechanisms by which KCNB1 mutations lead to neurological disorders. Studies are also exploring potential therapeutic interventions that can modulate Kv2.1 activity to treat these conditions.

See Also

• Voltage-gated potassium channel
• Neuronal action potential
• Epilepsy
• Intellectual disability
• Autism spectrum disorder