Gene Symbol | CACNB2 |
Entrez Gene ID | 783 |
Full Name | calcium voltage-gated channel auxiliary subunit beta 2 |
Synonyms | CACNLB2,CAVB2,MYSB |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Brugada syndrome 4, 611876 (3) |