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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
