CACNB2 Antibody – Rabbit Polyclonal

This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]

CACNB2: The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting. Defects in CACNB2 are the cause of Brugada syndrome type 4 (BRGDA4). 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 beta subunit family. 8 isoforms of the human protein are produced by alternative splicing.

Protein type: Channel, calcium

Chromosomal Location of Human Ortholog: 10p12

Cellular Component: integral to plasma membrane; voltage-gated calcium channel complex; sarcolemma

Molecular Function: voltage-gated calcium channel activity; protein binding; calcium channel activity; high voltage-gated calcium channel activity

Biological Process: synaptic transmission; axon guidance; visual perception; transport; positive regulation of calcium ion transport; neuromuscular junction development

Disease: Brugada Syndrome 4