CACNB4

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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.
References in periodicals archive ?
EA5 (420 mg) [right arrow] flash chromatography (column SPV D40 RP 18, 25-40 [micro]m, 90 g, precolumn Lichroprep RP-18 25-40 [micro]m (10 g)); mobile phase A: [H.
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