KCNB1

KCNB1

Symbol	KCNB1
HGNC ID	6258
Alternative symbols	–
Entrez Gene	3745
OMIM	616056
RefSeq	NM_004975
UniProt	Q14721
Chromosome	20q13
Locus supplementary data	–

KCNB1 is a gene that encodes the voltage-gated potassium channel subunit Kv2.1. This channel is crucial for the regulation of electrical signaling in neurons and other excitable cells.

Function

The KCNB1 gene product, Kv2.1, is a major component of the delayed rectifier potassium current in neurons. It plays a critical role in repolarizing the membrane potential following an action potential, thereby influencing neuronal excitability and firing patterns.

Clinical Significance

Mutations in the KCNB1 gene have been associated with a range of neurological disorders, including developmental and epileptic encephalopathy. These mutations can lead to altered channel function, which disrupts normal neuronal activity and can result in seizures and developmental delays.

Structure

Kv2.1 channels are composed of four identical subunits, each containing six transmembrane segments. The channel's pore is formed by the arrangement of these subunits, allowing selective passage of potassium ions.

Expression

The KCNB1 gene is widely expressed in the central nervous system, particularly in the cerebral cortex, hippocampus, and cerebellum. Its expression is crucial for maintaining normal neuronal function and excitability.

Interactions

Kv2.1 channels interact with various proteins that modulate their function and localization. These interactions are important for the precise regulation of neuronal signaling.

Research

Ongoing research is focused on understanding the detailed mechanisms by which KCNB1 mutations lead to neurological disorders. This research aims to develop targeted therapies that can correct or compensate for the dysfunctional channels.

See Also

• Voltage-gated potassium channel
• Neuronal excitability
• Epileptic encephalopathy

References

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External Links

• KCNB1 Gene - NCBI
• KCNB1 - OMIM