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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
The antibody detects endogenous levels of total CACNA1A protein.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: BI; Brain calcium channel I; Calcium channel, L type, alpha-1 polypeptide isoform 4; Voltage-dependent P/Q-type calcium channel subunit alpha-1A; Voltage-gated calcium channel subunit alpha Cav2.1
基因别名: CACH4; CACN3; CACNA1A; CACNL1A4
Entrez Gene ID: (Human) 773