Symbol: Name: ID: |
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit GFS:3339 |
Gene name: | CACNA1A |
Chromosome: | 19p13 |
Previous Symbols: | CACNL1A4, SCA6, MHP1, MHP |
Previous Names: | |
Aliases: | Cav2.1, EA2, APCA, HPCA, FHM |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:109482 | Rat Genome Database ID: | RGD:2244 |
HGNC ID: | HGNC:1388 | RefSeq IDs: | NM_000068 |
Entrez Gene ID: | 773 | Ensembl Gene ID: | |
VEGA IDs: | OTTHUMG00000044590 | UniProt ID: | O00555 |
UCSC ID: | uc002mwy.3 | OMIM ID: | 601011 |
Pubmed: | PMID8825650 PMID 16382099 | ||
CCDS IDs: | CCDSCCDS45998.1 CCDS CCDS45999.1 |
The Cav2.1 P/Q voltage-dependent calcium channel is encoded by the 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 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Mar 2010].
Products for CACNA1A gene
Catalog | Product Name | Application | Company |
GFS:E03339 | calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; ELISA kit | ELISA | n/a |
GFS:A03339 | calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; Anti | ANTIBODIES | n/a |
GFS:P03339 | calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; Protien | Protien | n/a |