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CACNA1A Proteine

(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].

Häufig verwendete CACNA1A Proteine

Aliase für CACNA1A Proteine

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