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CACNA1A Protéines

(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].

CACNA1A Protéines fréquemment utilisés

Pseudonymes pour CACNA1A Protéines

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