CACNA2D2
Description
The CACNA2D2 gene encodes for the alpha-2/delta-2 subunit of the L-type calcium channel, a crucial protein complex responsible for regulating calcium influx into heart muscle cells. This influx is essential for proper heart contraction and rhythm. Mutations in CACNA2D2 can lead to various cardiac conditions, impacting the heart‘s electrical and mechanical activity.
Associated Diseases
- Timothy Syndrome
- Long QT Syndrome Type 12
- Brugada Syndrome
- Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
- Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
Did you know?
Mutations in CACNA2D2 can lead to a wide spectrum of cardiac disorders, highlighting the gene‘s critical role in heart health.
