CACNB2

CACNB2

A gene on chromosome 10p12 that encodes a beta subunit of a voltage-dependent L-type calcium channel which, like other beta subunits, contributes to calcium-channel function by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation.
Molecular pathology
The gene product was first identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. CACNB2 mutations are associated with Brugada symdrome, type 4.