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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： cytosol,plasma membrane,voltage-gated calcium channel complex,cytoplasmic side of plasma membrane,synapse,
组织表达： Expressed predominantly in the cerebellum and kidney.
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.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： cytosol,plasma membrane,voltage-gated calcium channel complex,cytoplasmic side of plasma membrane,synapse,
组织表达： Expressed predominantly in the cerebellum and kidney.
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