TRDN
Function
Contributes to the regulation of lumenal Ca2+ release via the sarcoplasmic reticulum calcium release channels RYR1 and RYR2, a key step in triggering skeletal and heart muscle contraction. Required for normal organization of the triad junction, where T-tubules and the sarcoplasmic reticulum terminal cisternae are in close contact (By similarity). Required for normal skeletal muscle strength. Plays a role in excitation-contraction coupling in the heart and in regulating the rate of heart beats.
Involvement in disease
Cardiac arrhythmia syndrome, with or without skeletal muscle weakness
CARDAR
An autosomal recessive cardiac disorder characterized by stress-induced arrhythmias in infancy or early childhood. Patients present with recurrent syncope or cardiac arrest after physical activity or emotional stress. Sudden death may occur in early childhood. Some patients have muscle weakness.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated by CaMK2.
N-glycosylated.
Cellular localization
- Cell membrane
- Sarcoplasmic reticulum membrane
- Single-pass type II membrane protein
Alternative names
Triadin, TRDN