Calcium Channel, Voltage Dependent, Beta 2 Subunit (CACNb2)

CACNb2 encodes a subunit of a voltage-dependent calcium channel protein which 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 which is an autoimmune disorder. Mutations in this gene are associated with Brugada symdrome. Alternatively spliced variants have been identified for this gene. The screening resulted in the isolation of a cDNA clone encoding an antigen that they called myasthenic antigen B (MYSB). Of 7 Lambert-Eaton myasthenic syndrome sera, 3 recognized the MYSB fusion protein, whereas none of 34 control sera did. The predicted amino acid sequence of this clone shows a high degree of homology to the beta-subunit of calcium channel complexes.