CACNA1C(redirected from CACH2)
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CACNA1CA 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.
Defects of CACNA1C cause Timothy syndrome and Brugada syndrome type 3.