CACNA1A Rabbit anti-Human, Polyclonal, Proteintech

Description

• 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 predomitly 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.