CACNA1C-Related Channelopathies.

ABSTRACT: The CACNA1C gene encodes the pore-forming subunit of the Ca_V1.2 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 disorder known as Timothy syndrome (TS), which is characterized by neurodevelopmental deficits, long-QT syndrome, life-threatening cardiac arrhythmias, craniofacial abnormalities, and immune deficits. Since this initial description, the number and variety of disease-associated mutations identified in CACNA1C have grown tremendously, expanding the range of phenotypes

SUBMITTER: Herold KG 

PROVIDER: S-EPMC10576998 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature