CACNA1C

The CACNA1C gene encodes the voltage-dependent L-type calcium channel subunit alpha-1C (CaV1.2), also known as CACNL1A1. This subunit forms the pore of CaV1.2 channels, mediating calcium influx upon membrane depolarization—critical for cardiac excitation-contraction coupling, neuronal neurotransmitter release, and smooth muscle contraction.
CaV1.2 activity is regulated by cAMP/PKA signaling (phosphorylation enhances channel function). Mutations cause Timothy syndrome (long QT type 8) and are linked to bipolar disorder and schizophrenia. Clinically, dihydropyridine calcium channel blockers (e.g., nifedipine) target CaV1.2 for hypertension and angina; ongoing research explores subtype-specific modulators for psychiatric conditions.