Article
CACNA1C-Related Channelopathies.
Handbook of experimental pharmacology - 1 Jan 2023
Herold Kevin G, Hussey John W, Dick Ivy E
Abstract excerpt
The CACNA1C gene encodes the pore-forming subunit of the CaV1.2 L-type Ca2+ 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. The first mutations identified within CACNA1C were shown to cause a severe, multisystem...
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