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Description
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. Defects in CACNB4 are associated with susceptibility to idiopathic generalized epilepsy (IGE). 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. Defects in CACNB4 are a cause of juvenile myoclonic epilepsy (EJM). 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.Tissue specificity: Expressed predominantly in the cerebellum and kidney. Also known as: CACB4, Voltage-dependent L-type calcium channel subunit beta-4, Calcium channel voltage-dependent subunit beta 4.
Immunogen
A synthetic peptide from the c-terminal region of human CACNB4 (CACB4, Voltage dependent L-type calcium channel subunit beta-4) conjugated to an immunogenic carrier protein was used as the immunogen. The antigen is homologous in many species including mouse and rat.