CACNA2D4

CACNA2D4 is a gene that in humans encodes the alpha-2/delta subunit of the voltage-dependent calcium channel. This gene is part of the CACNA2D gene family and is located on chromosome 12 in humans. The protein encoded by this gene is involved in the regulation of calcium ion influx into cells, which is crucial for various cellular functions such as muscle contraction and neurotransmitter release.

Function

The CACNA2D4 gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the entry of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-2/delta subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. The complex is assembled in a defined order of subunit interaction, alpha-1 interacts with beta, followed by gamma, and finally the alpha-2/delta subunit.

Clinical Significance

Mutations in the CACNA2D4 gene have been associated with various disorders. For instance, a mutation in this gene has been linked to Retinal Cone Dystrophy 4 (RCD4), a disorder characterized by progressive vision loss and color blindness.

Research

Research into the CACNA2D4 gene and its associated proteins is ongoing, with studies focusing on understanding the role of this gene in normal cellular function and in disease states. This research may lead to new treatments for diseases associated with mutations in the CACNA2D4 gene.

See Also

• Voltage-dependent calcium channel
• CACNA2D1
• CACNA2D2
• CACNA2D3

References

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