Check out the volume 4, February issue of our newsletter.
CACNB2 (NM_201590.2, also known as CAVB2) encodes the beta-2 subunit of the voltage-dependent L-type calcium channel (LTCC). The beta-2 subunit plays an essential role in the voltage dependence of the LTCC and membrane targeting through the alpha-1 subunit (Lau et al. 2008 J Biol Chem. 283(23):15577-15588). CACNB2 is located at 10p12.33-p12.31 and contains 13 coding exons. Mutations in CACNB2 have been implicated as a rare cause of autosomal dominant Brugada syndrome (BrS) (Burashnikov et al. 2010. Heart Rhythm. 7(12):1872-1882).