CACNB2 est un gène codé par le symbole CACNB2. D'autres noms incluent: Voltage-dependent L-type calcium channel subunit beta-2; CAB2; Calcium channel voltage-dependent subunit beta 2; Lambert-Eaton myasthenic syndrome antigen B; MYSB; CACNLB2. CACNB2 a une masse de 73.58kDa, une longueur d'acide aminé de 660, et est impliqué dans Brugada syndrome 4.
Nous proposons 8 des anticorps contre CACNB2, élevé dans Lapin, Souris et Chèvre, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF et IP 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 subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described.
Spécificité tissulaire
Expressed in all tissues.
Implication dans la maladie
Brugada syndrome 4: A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.
Similitudes de séquence
Belongs to the calcium channel beta subunit family.
Modification post-traductionnelle
Regulated through phosphorylation at Thr-554 by CaMK2D.
Localisation cellulaire
Cell membrane > Sarcolemma.
