CACNB4 siRNA – Voltage-Dependent L-Type Calcium Channel Subunit Beta-4 Isoform a (Mouse)

CACNB4: 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 the cause of susceptibility to epilepsy, idiopathic generalized type 9 (EIG9). A disorder 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 the cause of susceptibility to juvenile myoclonic epilepsy type 6 (EJM6). EJM6 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. Defects in CACNB4 are the cause of episodic ataxia type 5 (EA5). EA5 is a disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia. Belongs to the calcium channel beta subunit family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Channel, calcium

Cellular Component: plasma membrane; voltage-gated calcium channel complex; synapse

Molecular Function: voltage-gated calcium channel activity; protein binding; calcium channel activity; high voltage-gated calcium channel activity; voltage-gated ion channel activity; protein kinase binding

Biological Process: spleen development; Peyer's patch development; synaptic transmission, glutamatergic; thymus development; gamma-aminobutyric acid secretion; synaptic transmission, GABAergic; adult walking behavior; T cell receptor signaling pathway; neurological system process; cellular calcium ion homeostasis; regulation of membrane potential; cAMP metabolic process; transport; calcium ion transport; action potential propagation; detection of light stimulus involved in visual perception; ion transport; muscle fiber development; gamma-aminobutyric acid signaling pathway; neuromuscular junction development; T cell differentiation