CACNG3

CACNG3 is a gene that encodes a member of the transmembrane amino acid transporter protein family. This gene is located on the short arm of chromosome 16, specifically at 16p12.3. The protein encoded by this gene is a type 3 voltage-dependent calcium channel gamma subunit, known as Calcium channel, voltage-dependent, gamma subunit 3.

Function

The CACNG3 gene is part of a larger family of genes known as the voltage-dependent calcium channel (VDCC) complex. This complex plays a crucial role in the calcium ion signaling pathway, which is involved in a variety of cellular functions, including muscle contraction, neurotransmitter release, gene expression, cell division, and cell death.

The protein encoded by the CACNG3 gene, the gamma-3 subunit, is one of several different subunits that make up the VDCC complex. This subunit is thought to play a role in the stability of the complex and may also influence the kinetics of calcium ion flow through the channel.

Clinical significance

Mutations in the CACNG3 gene have been associated with a variety of medical conditions. For example, some studies have suggested a link between mutations in this gene and idiopathic generalized epilepsy, a type of epilepsy characterized by seizures that appear to originate from all over the brain. However, more research is needed to confirm these findings and to fully understand the role of the CACNG3 gene in human health and disease.

See also

• Voltage-dependent calcium channel
• Calcium channel, voltage-dependent, gamma subunit 3
• Idiopathic generalized epilepsy

References

<references />

External links

• NCBI Gene
• Genetics Home Reference

   This article is a medical stub. You can help WikiMD by expanding it!