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CACNA1A 蛋白

(Calcium Channel, Voltage-Dependent, P/Q Type, alpha 1A Subunit (CACNA1A))
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].

Popular CACNA1A 蛋白

Aliases for CACNA1A 蛋白

calcium channel, voltage-dependent, P/Q type, alpha 1A subunit S homeolog (cacna1a.S) 蛋白
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, a (cacna1aa) 蛋白
calcium voltage-gated channel subunit alpha1 A (CACNA1A) 蛋白
calcium voltage-gated channel subunit alpha1 A (Cacna1a) 蛋白
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (Cacna1a) 蛋白
P/Q-type voltage-gated calcium channel alpha1A subunit ChCaChA1A (LOC395892) 蛋白
alpha1A 蛋白
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ca(v)2.1 蛋白
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CACNL1A4 蛋白
Cacnl1a4 蛋白
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CAV2.1 蛋白
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EA2 蛋白
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leaner 蛋白
MHP 蛋白
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rkr 蛋白
rocker 蛋白
SCA6 蛋白
si:ch211-237k17.1 蛋白
tg 蛋白
tottering 蛋白
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