CACNB4(redirected from EJM6)
CACNB4A 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.
CACNB4 mutations have been associated with idiopathic generalised epilepsy and juvenile myoclonic epilepsy.
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