CACNG4

CACNG4 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 17p13.1. The protein encoded by this gene is a type I transmembrane AMPAR regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. Defects in this gene are associated with childhood absence epilepsy type 3 (CAE3).

Function

The CACNG4 gene is part of the voltage-dependent calcium channel complex, which is a key player in neurotransmitter release, muscle contraction, and cell division. The protein encoded by this gene is a regulatory subunit of this complex and is involved in the regulation of ion transport across the cell membrane.

Clinical Significance

Mutations in the CACNG4 gene have been associated with childhood absence epilepsy type 3 (CAE3). This is a form of epilepsy characterized by staring spells and brief loss of consciousness. These seizures are caused by a disruption in the normal activity of nerve cells in the brain.

Research

Research into the CACNG4 gene and its associated proteins is ongoing. Understanding the function and regulation of this gene could lead to new treatments for conditions such as epilepsy and other neurological disorders.

See Also

• Voltage-dependent calcium channel
• Childhood absence epilepsy
• Neurotransmitter
• Cell division
• Ion transport

References

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