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Cat No | BSPA-1404 |
Conjugate | |
Type | Polyclonal Antibody |
Source | Rabbit |
Size | 1 mg |
Application | ELISA; IHC |
Format | Liquid |
Concentration | Please refer to the vial lable for the specific concentration. |
Buffer | Supplied in PBS. |
Species | Human |
Storage | Store at -20 degree. Avoid repeted freeze/thaw cycl. |
Synonyms | CACNA1A;BI;EA2;FHM;MHP;APCA;HPCA;MHP1;SCA6;CAV2.1;CACNL1A4 |
Purification | |
Note | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
MolecularWeight | |
Description | |
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 n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the 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 n-repeats which encode a polyglutamine tract. Expansion of the n-repeats from the normal 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6. |