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CACNA1A Proteins

(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 Proteins

Aliases for CACNA1A Proteins

calcium channel, voltage-dependent, P/Q type, alpha 1A subunit S homeolog (cacna1a.S) Proteins
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, a (cacna1aa) Proteins
calcium voltage-gated channel subunit alpha1 A (CACNA1A) Proteins
calcium voltage-gated channel subunit alpha1 A (Cacna1a) Proteins
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (Cacna1a) Proteins
P/Q-type voltage-gated calcium channel alpha1A subunit ChCaChA1A (LOC395892) Proteins
alpha1A Proteins
APCA Proteins
BccA1 Proteins
BI Proteins
ca(v)2.1 Proteins
Caca1a Proteins
CACH4 Proteins
CACN3 Proteins
cacna-a Proteins
cacna1a Proteins
CACNL1A4 Proteins
Cacnl1a4 Proteins
cav2.1 Proteins
Cav2.1 Proteins
CAV2.1 Proteins
Ccha1a Proteins
EA2 Proteins
FHM Proteins
HPCA Proteins
la Proteins
leaner Proteins
MHP Proteins
MHP1 Proteins
nmf352 Proteins
rbA-1 Proteins
rkr Proteins
rocker Proteins
SCA6 Proteins
si:ch211-237k17.1 Proteins
tg Proteins
tottering Proteins
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