Description
Product Characteristics:
CACNB2 is a subunit of a voltage-dependent calcium channel protein which is a member of the voltage-gated calcium channel superfamily, expressed in the CNS. 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. It was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome which is an autoimmune disorder. Mutations in this gene are associated with Brugada symdrome. Alternatively spliced variants have been identified for this gene.
Subcellular location: Cytoplasm, Cell membrane
Synonyms: Voltage-dependent L-type calcium channel subunit beta-2, CAB2, Cacnb2, Cacnlb2, VDCC-L Beta, Calcium channel voltage-dependent subunit beta 2, calcium channel, voltage-dependent, beta 2 subunit, calcium channel beta 2c subunit, calcium channel L-type beta 2 subunit, CACB2_HUMAN.
Target Information: 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. [provided by RefSeq, Feb 2013]