NP_001129994.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
NCBI Official Full Name
voltage-dependent L-type calcium channel subunit alpha-1C
NCBI Official Synonym Symbols
NCBI Protein Information
voltage-dependent L-type calcium channel subunit alpha-1C; CaCB receptor; smooth muscle calcium channel blocker
UniProt Protein Name
Voltage-dependent L-type calcium channel subunit alpha-1C
UniProt Synonym Protein Names
Calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle; Smooth muscle calcium channel blocker receptor; CACB-receptor; Voltage-gated calcium channel subunit alpha Cav1.2
UniProt Synonym Gene Names
UniProt Entry Name
CAC1C_RABIT
UniProt Comments for CACNA1C
CACNA1C: Voltage-sensitive calcium channels (VSCC) 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, gene expression, cell motility, cell division and cell death. The isoform alpha-1C gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin- GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1C subunit play an important role in excitation-contraction coupling in the heart. The various isoforms display marked differences in the sensitivity to DHP compounds. Binding of calmodulin or CABP1 at the same regulatory sites results in an opposit effects on the channel function. Defects in CACNA1C are the cause of Timothy syndrome (TS). TS is a disorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities and autism. Defects in CACNA1C are the cause of Brugada syndrome type 3 (BRGDA3). A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs (called ventricular fibrillation), the individual will faint and may die in a few minutes if the heart is not reset. Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1C subfamily. 35 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, multi-pass; Channel, calcium; Membrane protein, integral
Product References and Citations for anti-CACNA1C antibody
1. Hille B. (2001) Ion Channels of Excitable Membranes, 3rd Ed., Sinauer Associated Inc.:Sunderland, MA USA. 2. www.iochannels.org 3. Splawski I., et al. (2004) Cell. 119 (1): 19-31. 4. Krey J.F., and Dolmetsch R. (2009) Biophysical. 96 (3): 221a-222a. 5. Crotti L., Celano G., Dagradi F. and Schwartz P.J. (2008) Orphanet J Rare Disease 3:18.
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Diseases associated with anti-CACNA1C antibody
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