Aliases for CACNB4 Gene
External Ids for CACNB4 Gene
This gene encodes 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. [provided by RefSeq, Mar 2009]
GeneCards Summary for CACNB4 Gene
CACNB4 (Calcium Channel, Voltage-Dependent, Beta 4 Subunit) is a Protein Coding gene. Diseases associated with CACNB4 include epilepsy, idiopathic generalized 9 and cacnb4-related juvenile myoclonic epilepsy. Among its related pathways are MAPK signaling pathway and L1CAM interactions. GO annotations related to this gene include voltage-gated calcium channel activity and high voltage-gated calcium channel activity. An important paralog of this gene is CACNB3.
UniProtKB/Swiss-Prot for CACNB4 Gene
The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting