CACNA2D4

Description

The CACNA2D4 gene provides instructions for making a protein called alpha-2/delta-4, a subunit of voltage-dependent L-type calcium channels. These channels are essential for regulating the flow of calcium ions into cells, a process vital for various physiological functions, including muscle contraction, neurotransmitter release, and hormone secretion. The alpha-2/delta-4 subunit plays a crucial role in the assembly and trafficking of the calcium channel complex to the cell membrane, ensuring proper channel function. Mutations in the CACNA2D4 gene can disrupt calcium signaling, leading to a range of health problems.

Associated Diseases

• Timothy Syndrome
• Long QT Syndrome 12
• Hypokalemic Periodic Paralysis
• Episodic Ataxia Type 2
• Cardiac Arrhythmias

Did you know?

Mutations in CACNA2D4 gene can cause a rare genetic disorder called Timothy Syndrome, characterized by distinctive facial features, heart defects, and immune system abnormalities.