Cav2.1, also known as P/Q voltage-dependent calcium channel, is a calcium channel that in humans is encoded by the CACNA1A gene. Cav2.1 is highly expressed within the brain, where it is found on the presynaptic terminals of neurons in the cerebral cortex and cerebellum.
Cav2.1 plays an important role in controlling the release of neurotransmitters between neurons. It is composed of multiple subunits, including alpha-1, beta, alpha-2/delta, and gamma subunits. The alpha-1 subunit is the pore-forming subunit, meaning that the calcium ions flow through it.
Different kinds of calcium channels have different isoforms (versions) of the alpha-1 subunit. Cav2.1 has the alpha-1A subunit, which is encoded by the CACNA1A gene. Mutations in CACNA1A have been associated with various neurologic disorders, including familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6.
Clinical significance
Mutations in the CACNA1A gene are associated with multiple neurologic disorders, many of which are episodic, such as familial hemiplegic migraine, movement disorders such as episodic ataxia, and epilepsy with multiple seizure types.
Interactions
Cav2.1 has been shown to interact with CACNB4.
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Further reading
In In
External links Patient groups CACNA1A Foundation