CACNB4 : calcium voltage-gated channel auxiliary subunit beta 4

Description

The CACNB4 (calcium voltage-gated channel auxiliary subunit beta 4) is a protein-coding gene located on chromosome 2.

The CACNB4 gene provides instructions for making a protein called beta-4, which is a subunit of calcium channels. These channels are responsible for transporting calcium ions into cells, which is essential for various functions like cell communication, muscle contraction, and gene regulation. The beta-4 subunit is particularly important in the brain, especially in the cerebellum, where it helps regulate communication between nerve cells by controlling the release of neurotransmitters. Calcium channels are crucial for neuron survival and their ability to adapt over time.

CACNB4 is also known as CAB4, CACNLB4, EA5, EIG9, EJM, EJM4, EJM6.

Associated Diseases

• Episodic ataxia type 5
• Episodic ataxia, type 5
• Juvenile myoclonic epilepsy
• Epilepsy, idiopathic generalized, susceptibility to, 9
• Episodic ataxia