CACNA1C Antibody – Rabbit Polyclonal

This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]

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: Channel, calcium; Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 12p13.3

Cellular Component: cell soma; cytoplasm; postsynaptic density; caveolar macromolecular signaling complex; integral to membrane; plasma membrane; voltage-gated calcium channel complex; dendritic shaft; Z disc

Molecular Function: voltage-gated calcium channel activity; calmodulin binding; protein binding; enzyme binding; metal ion binding; high voltage-gated calcium channel activity; alpha-actinin binding

Biological Process: axon guidance; regulation of organ growth; glucose homeostasis; adult walking behavior; calcium ion-dependent exocytosis; growth hormone secretion; synaptic transmission; elevation of cytosolic calcium ion concentration; insulin secretion; smooth muscle contraction involved in micturition; regulation of vasoconstriction; regulation of blood pressure; energy reserve metabolic process; visual learning; regulation of insulin secretion

Disease: Timothy Syndrome; Brugada Syndrome 3