Check out the volume 4, February issue of our newsletter.
CACNA2D1 encodes the alpha-2/delta subunit of skeletal muscle and brain voltage-dependent calcium channels. CACNA2D1 is located at 7q21.11 and is composed of 39 coding exons. Mutations in this gene are associated with short QT syndrome (SQTS) and Brugada syndrome (BrS) (Templin, 2011. European Heart Journal. 32:1077–1088; Antzelevitch et al. 2007. Circulation. 115(4):442-449).