CACNA2D1

CACNA2D1 is a gene that encodes the alpha-2/delta subunit of the voltage-dependent calcium channel complex in humans. This complex plays a crucial role in the release of neurotransmitters from neurons and from a variety of non-neuronal cells. This gene is also associated with several disorders, including epilepsy and schizophrenia.

Function

The CACNA2D1 gene provides instructions for making a protein that is part of a family of proteins that form calcium channels. These channels, which are present in the membrane of cells, control the flow of positively charged calcium atoms (calcium ions) into cells. The CACNA2D1 protein is one part (subunit) of a group of proteins that form a specific type of calcium channel known as an L-type calcium channel.

Clinical significance

Mutations in the CACNA2D1 gene have been associated with various neurological disorders. For instance, some studies have suggested a link between variations in this gene and the risk of developing epilepsy and schizophrenia. However, more research is needed to confirm these findings and understand the mechanisms involved.

See also

• Voltage-dependent calcium channel
• Calcium channelopathy

References

This article incorporates text from the United States National Library of Medicine, which is in the public domain.