CACNB4
CACNB4
A gene on chromosome 2q22-q23 that encodes a beta subunit of a voltage-dependent calcium channel, which plays a regulatory role in calcium channel function by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling alpha-1 subunit membrane targeting.Molecular pathology
CACNB4 mutations have been associated with idiopathic generalised epilepsy and juvenile myoclonic epilepsy.