Aliases for CACNA1A Gene
- Calcium Voltage-Gated Channel Subunit Alpha1 A 2 3 5
- Calcium Channel, Voltage-Dependent, P/Q Type, Alpha 1A Subunit 2 3
- Voltage-Gated Calcium Channel Subunit Alpha Cav2.1 3 4
- Brain Calcium Channel I 3 4
- CACNL1A4 3 4
- BI 3 4
- Fetal Brain Ca2+ Voltage-Gated Channel Alpha1A Pore-Forming Subunit 3
- Voltage-Dependent P/Q-Type Calcium Channel Subunit Alpha-1A 3
- Calcium Channel, L Type, Alpha-1 Polypeptide Isoform 4 4
- Calcium Channel, L Type, Alpha-1 Polypeptide 3
- Brain Calcium Channel 1 3
- CAV2.1 3
External Ids for CACNA1A Gene
Previous HGNC Symbols for CACNA1A Gene
Previous GeneCards Identifiers for CACNA1A Gene
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 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]
GeneCards Summary for CACNA1A Gene
CACNA1A (Calcium Voltage-Gated Channel Subunit Alpha1 A) is a Protein Coding gene. Diseases associated with CACNA1A include Spinocerebellar Ataxia 6 and Episodic Ataxia, Type 2. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and GABAergic synapse. GO annotations related to this gene include ion channel activity and voltage-gated calcium channel activity. An important paralog of this gene is CACNA1B.
UniProtKB/Swiss-Prot for CACNA1A Gene
Voltage-sensitive calcium channels (VSCC) 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, gene expression, cell motility, cell division and cell death. The isoform alpha-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the high-voltage activated (HVA) group and are blocked by the funnel toxin (Ftx) and by the omega-agatoxin-IVA (omega-Aga-IVA). They are however insensitive to dihydropyridines (DHP), and omega-conotoxin-GVIA (omega-CTx-GVIA).
Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium influx in response to depolarization. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression.