CACNA1A Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	IHC
Recommend Dilution	IHC: 15-50 Positive control: Human liver cancer Predicted cell location: Cytoplasm
Reactivity	Human
Host	Rabbit
Clonality	Polyclonal
Immunogen	Synthetic peptide of human CACNA1A
Formulation	pH7.4 PBS, 0.05% NaN3, 40% Glyceroln
Concentration	lot specific
Purification	Antigen affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20°C as received.
Gene Name	calcium voltage-gated channel subunit alpha1 A
Database Link	NP_075461 Entrez Gene 773 Human UniProt ID O00555
Background	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.
Synonyms	APCA; BI; CACNL1A4; CAV2.1; EA2; EIEE42; FHM; HPCA; MHP; MHP1; SCA6
Reference Data
Protein Families	Druggable Genome, Ion Channels: Calcium, Transmembrane
Protein Pathways	Calcium signaling pathway, Long-term depression, MAPK signaling pathway, Taste transduction, Type II diabetes mellitus

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