CACNB4, Official Symbol CACNB4provided by HGNC Official Full Name calcium voltage-gated channel auxiliary subunit beta 4provided by HGNC Primary source HGNC:HGNC:1404 See related Ensembl:ENSG00000182389 MIM:601949; AllianceGenome:HGNC:1404 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EA5; EJM; CAB4; EIG9; EJM4; EJM6; CACNLB4 Summary 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), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, Aug 2016] Expression Biased expression in brain (RPKM 5.9), skin (RPKM 2.0) and 8 other tissues See more Orthologs mouse all