CACNB4

CACNB4 is a gene that encodes the calcium channel beta-4 subunit in humans. This gene is part of the voltage-gated calcium channel complex, which plays a crucial role in various physiological functions, including muscle contraction, neurotransmitter release, gene expression, and cell survival.

Function

The CACNB4 gene provides instructions for making a protein that is part of a family of proteins known as L-type calcium channels. These channels, which are located in the cell membrane, control the flow of calcium ions into cells. The protein produced from the CACNB4 gene forms a subunit of the L-type calcium channel. This subunit helps regulate the channel's properties, including its sensitivity to changes in voltage.

Clinical significance

Mutations in the CACNB4 gene have been associated with various medical conditions. For instance, a specific mutation in this gene has been linked to episodic ataxia, a neurological condition characterized by episodes of poor coordination and balance (ataxia). Other mutations have been associated with idiopathic generalized epilepsy, a type of seizure disorder.

See also

• Voltage-gated calcium channel
• Episodic ataxia
• Idiopathic generalized epilepsy

References

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