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cacna1a

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Official Full Name
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Background
Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3 UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Mar 2010]
Synonyms
CACNA1A; calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; BI; EA2; FHM; MHP; APCA; HPCA; MHP1; SCA6; CAV2.1; CACNL1A4; voltage-dependent P/Q-type calcium channel subunit alpha-1A; brain calcium channel 1; brain calcium channel I; calcium channel, L type, alpha-1 polypeptide; voltage-gated calcium channel subunit alpha Cav2.1; CACH4; CACN3

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