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.
References in periodicals archive ?
Genetic analysis was performed on 18 genes, including KCNA1, CACNA1A, CACNB4, SLC1A3, VAMP1, APTX, SETX, and PNKP.
Shankar et al., "Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4," Headache, vol.
Coding and noncoding variation of the human calcium-channel [Beta]4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.