CACNA1A
CACNA1A (calcium voltage-gated channel subunit alpha1 A, also known as Cav2.1) encodes the pore-forming alpha-1A subunit of the P/Q-type voltage-dependent calcium channel. It is predominantly expressed in neuronal tissue and mediates calcium entry into excitable cells. Browse Assay Genie's current range of CACNA1A research reagents below, or read on for the biology behind the target.
Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells and are 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 alpha-1A isoform gives rise to P and/or Q-type calcium currents. These channels belong to the high-voltage activated (HVA) group, are specifically blocked by the spider toxin omega-agatoxin-IVA, and are insensitive to dihydropyridines.
Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta and gamma subunits. Channel activity is directed by the pore-forming alpha-1 subunit, while the others act as auxiliary subunits that regulate it. The distinctive properties of each channel type relate mainly to which alpha-1 isoform is expressed (alpha-1A, B, C, D, E or S). The CACNA1A gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. The CACNA1A protein belongs to the calcium channel alpha-1 subunit family and is part of the HGNC group of calcium voltage-gated channel alpha1 subunits. It was previously named calcium channel, voltage-dependent, P/Q type, alpha 1A subunit.
Mutations in the CACNA1A gene are associated with two neurological disorders, familial hemiplegic migraine and episodic ataxia 2. The gene also shows polymorphic variation through (CAG)n repeats, and multiple transcript variants encoding different isoforms have been described. In one set of variants the repeats lie in the 3' UTR and are not linked to disease. In another, an insertion extends the coding region to include the repeats, which encode a polyglutamine tract; expansion from the normal 4-18 repeats to 21-33 is associated with spinocerebellar ataxia 6.
CACNA1A forms the pore of P/Q-type channels that control calcium entry into excitable cells and support calcium-dependent processes such as neurotransmitter release.
Mutations in the CACNA1A gene are associated with episodic ataxia 2, making the alpha-1A subunit a focus for studies of this neurological disorder.
Mutations in this gene are associated with familial hemiplegic migraine, linking the alpha-1A subunit to the study of inherited migraine.
CAG repeat expansion in the coding region is associated with spinocerebellar ataxia 6, relevant to work on polyglutamine tract variants.
CACNA1A encodes the pore-forming alpha-1A subunit of the voltage-dependent P/Q-type calcium channel. The channel mediates calcium entry into excitable cells, supporting processes such as muscle contraction, hormone or neurotransmitter release and gene expression. Auxiliary beta, alpha-2/delta and gamma subunits regulate its activity.
Aliases include Cav2.1, EA2, APCA, HPCA, FHM, CACNL1A4, SCA6, MHP1 and MHP. The UniProt name is voltage-dependent P/Q-type calcium channel subunit alpha-1A. Multiple transcript variants encode different isoforms, so the symbol can refer to several related protein forms.
Mutations in CACNA1A are associated with familial hemiplegic migraine and episodic ataxia 2, and CAG repeat expansion in the coding region is associated with spinocerebellar ataxia 6. Mouse and rat both have a Cacna1a ortholog; check the datasheet of any product for its validated reactivity.
Other voltage-gated calcium channel alpha-1 subunits that share the pore-forming role of CACNA1A, with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt O00555; product specifications from Assay Genie datasheets.