CACNA1D : calcium voltage-gated channel subunit alpha1 D

Description

The CACNA1D gene encodes the alpha-1D subunit of the L-type calcium channel, a crucial protein involved in the heart‘s electrical activity and muscle contraction. This channel allows calcium ions to flow into heart cells, triggering muscle contraction and controlling heart rhythm. Mutations in CACNA1D can lead to various heart conditions, emphasizing its vital role in maintaining cardiovascular health.

Associated Diseases

• Timothy syndrome
• Long QT syndrome type 8
• Brugada syndrome
• Catecholaminergic polymorphic ventricular tachycardia (CPVT)
• Arrhythmogenic right ventricular dysplasia (ARVD)
• Atrial fibrillation
• Hypertrophic cardiomyopathy

Did you know?

Mutations in the CACNA1D gene can cause a wide range of heart conditions, highlighting its critical role in maintaining cardiac health.