The preproprotein encoded by CACNA2D1(calcium voltage-gated channel auxiliary subunit alpha2delta 1) is cleaved into multiple chains that comprise the alpha-2 and delta subunits of the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. Mutations in CACNA2D1 can cause cardiac deficiencies, including Brugada syndrome and short QT syndrome. Alternate splicing results in multiple transcript variants, some of which may lack the delta subunit portion.基因ID为:781;蛋白质ID:P54289