CACNG1

CACNG1 is a gene that encodes a member of the transmembrane proteins, specifically the voltage-dependent calcium channel gamma subunit family. This gene is located on the short arm of chromosome 17, specifically at 17q24.3. The protein encoded by this gene is an integral part of the voltage-dependent calcium channel complex, which plays a crucial role in various physiological functions, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death.

Function

The CACNG1 gene encodes the gamma-1 subunit of the voltage-dependent calcium channel. This subunit plays a key role in the formation and function of the calcium channel by stabilizing the alpha-1 subunit and modulating the activity of the channel. The gamma-1 subunit also influences the kinetics of the channel and its sensitivity to certain pharmacological agents.

Clinical Significance

Mutations in the CACNG1 gene have been associated with various neurological disorders. For instance, a mutation in this gene has been linked to juvenile myoclonic epilepsy, a common form of epilepsy that begins in adolescence and is characterized by myoclonic jerks, usually upon awakening.

Research

Research on the CACNG1 gene is ongoing, with scientists seeking to understand more about its function and the role it plays in disease. This research could potentially lead to new treatments for conditions associated with mutations in this gene.

See Also

• Voltage-dependent calcium channel
• Juvenile myoclonic epilepsy
• Gene expression
• Cell motility