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]
- Ion transport
- Calcium ion transport
- Chemical synaptic transmission
- Neuromuscular junction development
- Visual perception
- Brugada syndrome 4
- Lambert-eaton myasthenic syndrome
- Brugada syndrome
- Early repolarization associated with ventricular fibrillation
- Short qt syndrome
CACNB2 localizations – Subcellular Localization Database