Molecular weight (DA)
275kD
Immunogen
Synthesized peptide derived from human protein . at AA range: 1401-1450
Specificity
CAC1A Polyclonal Antibody detects endogenous levels of protein.
Formulation
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Dilution rate
IHC-p 1:50-300. IF 1:50-200
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
calcium voltage-gated channel subunit alpha1 A(CACNA1A) Homo sapiens 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
Function
alternative products:Additional isoforms seem to exist,disease:Defects in CACNA1A are the cause of episodic ataxia type 2 (EA2) [MIM:108500]; also known as acetazolamide-responsive hereditary paroxysmal cerebellar ataxia (APCA). EA2 is an autosomal dominant disorder characterized by acetozolamide-responsive attacks of ataxia, migraine-like symptoms, interictal nystagmus, and cerebellar atrophy.,disease:Defects in CACNA1A are the cause of familial hemiplegic migraine (FHM) [MIM:141500]; also known as migraine familial hemiplegic 1 (MHP1). FHM, a rare autosomal dominant subtype of migraine with aura, is associated with ictal hemiparesis and, in some families, progressive cerebellar atrophy.,disease:Defects in CACNA1A are the cause of spinocerebellar ataxia type 6 (SCA6) [MIM:183086]. Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patient
Gene Name
CACNA1A CACH4 CACN3 CACNL1A4
Protein name
Voltage-dependent P/Q-type calcium channel subunit alpha-1A (Brain calcium channel I) (BI) (Calcium channel, L type, alpha-1 polypeptide isoform 4) (Voltage-gated calcium channel subunit alpha Cav2.1)
Fields
>>MAPK signaling pathway;>>Calcium signaling pathway;>>Synaptic vesicle cycle;>>Retrograde endocannabinoid signaling;>>Glutamatergic synapse;>>Cholinergic synapse;>>Serotonergic synapse;>>GABAergic synapse;>>Dopaminergic synapse;>>Long-term depression;>>Taste transduction;>>Type II diabetes mellitus;>>Spinocerebellar ataxia;>>Morphine addiction;>>Nicotine addiction;>>Chemical carcinogenesis - receptor activation
Human protein sequence Database
O00555
Mouse protein sequence database
P97445
Rat protein sequence database
P54282
Cellular localization
Cell membrane ; Multi-pass membrane protein .
Tissue expression
Brain specific; mainly found in cerebellum, cerebral cortex, thalamus and hypothalamus. Expressed in the small cell lung carcinoma cell line SCC-9. No expression in heart, kidney, liver or muscle. Purkinje cells contain predominantly P-type VSCC, the Q-type being a prominent calcium current in cerebellar granule cells.
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