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CACNB4 is a member of the beta subunit family of voltage-dependent calcium channel complex proteins. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. The protein encoded by this locus plays an important role in calcium channel function by modulating G protein inhibition, increasing peak calcium current, controlling the alpha-1 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). Multiple transcript variants encoding different isoforms have been found for this gene.
Gene Name: | calcium channel, voltage-dependent, beta 4 subunit |
Family/Subfamily: | Ion Channel , Calcium channel - beta subunit |
Synonyms: | CACNB4, CAB4, Calcium channel beta 4, Cavbeta4, Cchb4, EA5, EJM6, EJM, CACNLB4, EIG9, EJM4 |
Target Sequences: | NM_000726 NP_000717.2 O00305 |
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