CACNB4 est un gène codé par le symbole CACNB4. D'autres noms incluent: Voltage-dependent L-type calcium channel subunit beta-4; CAB4; Calcium channel voltage-dependent subunit beta 4; CACNLB4. CACNB4 a une masse de 58.17kDa, une longueur d'acide aminé de 520, et est impliqué dans les maladies: Epilepsy, idiopathic generalized 9; Juvenile myoclonic epilepsy 6; Episodic ataxia 5.
Nous proposons 2 des anticorps contre CACNB4, élevé dans Lapin et Chèvre, qui sont appropriés pour le WB et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
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.
Spécificité tissulaire
Expressed predominantly in the cerebellum and kidney.
Implication dans la maladie
Epilepsy, idiopathic generalized 9: 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.
Juvenile myoclonic epilepsy 6: 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.
Episodic ataxia 5: 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.
Similitudes de séquence
Belongs to the calcium channel beta subunit family.
