CACNA1A
CACNA1A
A gene on chromosome 19p13 that encodes the alpha-1A subunit of a voltage-dependent P/Q-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.Molecular pathology
CACNA1A mutations are associated with familial hemiplegic migraine and episodic ataxia 2.