Ion channels are integral membrane proteins that help establish and control the small voltage gradient across the plasma membrane of living cells by allowing the flow of ions down their electrochemical gradient. They are present in the membranes that surround all biological cells because their main function is to regulate the flow of ions across this membrane. Whereas some ion channels permit the passage of ions based on charge, others conduct based on a ionic species, such as sodium or potassium. Furthermore, in some ion channels, the passage is governed by a gate which is controlled by chemical or electrical signals, temperature, or mechanical forces. Specifically, this gene encodes a member of the β subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of α1, α3/δ, β, andγ subunits in a 1:1:1:1 ratio. The protein described in this record plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling theα1 subunit membrane targeting and shifting the voltage dependence of activation and inactivation. Certain mutations in this gene have been associated with idiopathic generalized epilepsy (IGE) and juvenile myoclonic epilepsy (JME). Alternate transcriptional splice variants of this gene, encoding different isoforms, have been characterized.
CACNB4; Cavβ4 Calcium Channel; EA5; EJM; calcium channel, voltage-dependent, beta 4 subunit; CAB4; EIG9; EJM4; EJM6; CACNLB4; voltage-dependent L-type calcium channel subunit beta-4; calcium channel voltage-dependent subunit beta 4; dihydropyridine-sensitive L-type, calcium channel beta-4 subunit; OTTHUMP00000207228; OTTHUMP00000207246; OTTHUMP00000207247; OTTHUMP00000207248; OTTHUMP00000207249; OTTHUMP00000209460