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.
References in periodicals archive ?
The encoded protein is the predominant aquaporin found in the brain CACNB2 Calcium channel, voltage-dependent, beta 2 subunit.
Associations between schizophrenia and genes that encode voltage-gated calcium channel subunits, including CACNA1C, CACNB2, and CACNA11, also were observed.
This pathway includes the genes CACNA1C and CACNB2, whose proteins touch each other as part of an important process in nerve cells.