CACNB4 Antibody – Goat Polyclonal

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) and juvenile myoclonic epilepsy (JME). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

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

Chromosomal Location of Human Ortholog: 2q22-q23

Cellular Component: cytosol; internal side of plasma membrane; plasma membrane; synapse; voltage-gated calcium channel complex

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

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

Disease: Epilepsy, Idiopathic Generalized, Susceptibility To, 9; Episodic Ataxia, Type 5