CACNA1C

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CACNA1C

A gene on chromosome 12p13.3 that encodes the alpha-1C subunit of a voltage-dependent N-type calcium channel, which mediates the entry of calcium ions into excitable cells. These channels are also involved in various calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and apoptosis. CACNA1C is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons.

Molecular pathology
Defects of CACNA1C cause Timothy syndrome and Brugada syndrome type 3.
References in periodicals archive ?
The rats mimic specific symptoms of autism spectrum disorder because they are each genetically engineered to lack one of seven genes associated with the autism spectrum disorders: Fmr1, Neuroligin 3, Neurexin 1 alpha, Cav1.