PrimePCR™ Probe Assay: CACNA1A, Human

RT

Real-time PCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

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Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCIP0030898
Assay Design:   Intron-spanning
Chromosome Location:   19:13370404-13372302question
Amplicon Length:   121
Splice Variants Targeted:   ENST00000445042 ENST00000360228 ENST00000418012 ENST00000357018 ENST00000325084

Gene Information

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]

Gene Symbol:   CACNA1A
Gene Name:   calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Aliases:   APCA, CACNL1A4, CAV2.1, EA2, FHM, HPCA, MHP, MHP1, SCA6
RefSeq:   NC_000019.9 NT_011295.11 NG_011569.1
Ensembl:   ENSG00000141837
Entrez:   773
Chromosome Mapping:   19p13

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