Target:CACB4
Fields:MAPK signaling pathway;Cardiac muscle contraction;Adrenergic signaling in cardiomyocytes;Oxytocin signaling pathway;Hypertrophic cardiomyopathy;Arrhythmogenic right ventricular cardiomyopathy;Dilated cardiomyopathy
Gene Name:CACNB4 CACNLB4
Protein Name:Voltage-dependent L-type calcium channel subunit beta-4 (CAB4) (Calcium channel voltage-dependent subunit beta 4)
Human Gene Id:785
Human Swiss Prot No:O00305
Mouse Swiss Prot No:Q8R0S4
Immunogen:Synthesized peptide derived from human protein . at AA range: 160-240
Specificity:CACB4 Polyclonal Antibody detects endogenous levels of protein.
Formulation:Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Source:Polyclonal, Rabbit,IgG
Dilution:WB 1:500-2000 ELISA 1:5000-20000
Purification:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration:1 mg/ml
Storage Stability:-15°C to -25°C/1 year(Do not lower than -25°C)
Observed Band(KD):57kD
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), juvenile myoclonic epilepsy (JME), and episodic ataxia, type 5. [provided by RefSeq, A
Function: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, modu
Subcellular Location:cytosol,plasma membrane,voltage-gated calcium channel complex,cytoplasmic side of plasma membrane,synapse,
Expression:Expressed predominantly in the cerebellum and kidney.