CACNB2 ist ein Gen, das durch das Symbol CACNB2 kodiert wird. Andere Namen sind: 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 hat eine Masse von 73.58kDa, eine Aminosäurelänge von 660, und ist an Brugada syndrome 4 beteiligt.
Wir bieten 8 antikörper gegen CACNB2, aufgewachsen in Kaninchen, Maus und Ziege, welche geeignet sind für WB, IHC, ELISA, ICC/IF and IP mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Gewebespezifität
Expressed in all tissues.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the calcium channel beta subunit family.
Posttranslationale Modifikation
Regulated through phosphorylation at Thr-554 by CaMK2D.
Zellort
Cell membrane > Sarcolemma.
