CACNA1C-Related Channelopathies.

The CACNA1C gene encodes the pore-forming subunit of the Ca1.2 L-type Ca channel, a critical component of membrane physiology in multiple tissues, including the heart, brain, and immune system. As such, mutations altering the function of these channels have the potential to impact a wide array of cellular functions.

CaV1.2 channelopathic mutations evoke diverse pathophysiological mechanisms.

The first pathogenic mutation in CaV1.2 was identified in 2004 and was shown to cause a severe multisystem disorder known as Timothy syndrome (TS). The mutation was localized to the distal S6 region of the channel, a region known to play a major role in channel activation.