产品名称
CACB4 Rabbit Polyclonal Antibody
蛋白名称
Voltage-dependent L-type calcium channel subunit beta-4 (CAB4) (Calcium channel voltage-dependent subunit beta 4)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
O00305
Human Swissprot Link
https://www.uniprot.org/uniprotkb/O00305/entry
Mouse Swissprot No.
Q8R0S4
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q8R0S4
免疫原
Synthesized peptide derived from human protein . at AA range: 160-240
特异性
CACB4 Polyclonal Antibody detects endogenous levels of protein.
稀释度
WB 1:500-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
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, A
组织表达
Expressed predominantly in the cerebellum and kidney.
细胞定位
cytosol,plasma membrane,voltage-gated calcium channel complex,cytoplasmic side of plasma membrane,synapse,
信号通路
MAPK_ERK_Growth;MAPK_G_Protein;Cardiac muscle contraction;Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;
功能
disease:Defects in CACNB4 are a cause of juvenile myoclonic epilepsy (EJM) [MIM:606904]. EJM is a subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.,disease:Defects in CACNB4 are associated with susceptibility to idiopathic generalized epilepsy (IGE) [MIM:600669]. IGE is characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain.,function: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.,similarity:Belongs to the calcium channel beta subunit family.,similarity:Contains 1 SH3 domain.,subunit:The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma.,tissue specificity:Expressed predominantly in the cerebellum and kidney.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
