CACNA2D2

CACNA2D2 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. Mutations in the CACNA2D2 gene have been associated with various neurological disorders, including epilepsy, autism, and mental retardation.

Function

The CACNA2D2 gene provides instructions for making a protein that is part of a family of proteins that carry positively charged calcium atoms (calcium ions) across cell membranes. This protein is found in the brain, where it is involved in the transmission of signals between nerve cells (neurons). The protein produced from the CACNA2D2 gene is a subunit of a larger protein complex known as a voltage-dependent calcium channel. These channels play a key role in a cell's ability to generate and transmit electrical signals.

Clinical significance

Mutations in the CACNA2D2 gene have been associated with a number of neurological disorders. These include Epileptic encephalopathy, an early-onset neurological disorder characterized by seizures and impaired intellectual development. Other disorders associated with mutations in this gene include Autism spectrum disorder, a developmental disorder that affects communication and behavior, and Mental retardation, a condition characterized by below-average intelligence or mental ability.

Research

Research into the CACNA2D2 gene and its associated protein is ongoing, with scientists seeking to better understand the role this gene plays in the brain and how mutations can lead to neurological disorders. This research may lead to new treatments for these disorders in the future.

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Location of the CACNA2D2 gene on human chromosome 3.

See also

• Voltage-dependent calcium channel
• Calcium channel
• Neurotransmitter