CACNB2 è un gene codificato dal simbolo CACNB2. Altri nomi includono: 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 ha una massa di 73.58kDa, una lunghezza di amminoacidi di 660, ed è implicato in Brugada syndrome 4.
Offriamo 8 anticorpi contro CACNB2, allevati nel Coniglio, Topo e Capra, che sono adatti per WB, IHC, ELISA, ICC/IF e IP con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Specificità del tessuto
Expressed in all tissues.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the calcium channel beta subunit family.
Modifica post-translazionale
Regulated through phosphorylation at Thr-554 by CaMK2D.
Posizione cellulare
Cell membrane > Sarcolemma.
