The preproprotein encoded by this gene 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 this gene 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. [provided by RefSeq, Nov 2014]

  • Ion transport
  • Calcium ion transport
  • Regulation of ion transmembrane transport
  • Regulation of calcium ion transport
  • Regulation of ventricular cardiac muscle cell membrane repolarization
  • Familial short qt syndrome
  • Short qt syndrome
  • Brugada syndrome
  • Timothy syndrome

Gene Location