Bio Background |
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. |
Bio References |
Replication of previous genome-wide association studies of bone mineral density in premenopausal American women. Ichikawa S, et al. J Bone Miner Res, 2010 Aug. PMID 20200978.Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. Voss M, et al. BMC Immunol, 2009 Oct 6. PMID 19807924.A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy. Ohmori I, et al. Neurobiol Dis, 2008 Dec. PMID 18755274.[Physiological role of presynaptic Ca2+ channel complexes on neurotransmitter release] Kiyonaka S, et al. Seikagaku, 2008 Jul. PMID 18712068.Episodic ataxia: SLC1A3 and CACNB4 do not explain the apparent genetic heterogeneity. Graves TD, et al. J Neurol, 2008 Jul. PMID 18446307. |