CASQ1
Description
The CASQ1 gene provides instructions for making calsequestrin-1, a protein found in the sarcoplasmic reticulum (SR) of heart muscle cells. The SR is a network of internal membranes that stores calcium ions, which are essential for muscle contraction. Calsequestrin-1 binds to and stores a large amount of calcium ions, ensuring their rapid release when needed for muscle contraction. Mutations in the CASQ1 gene can disrupt the normal function of calsequestrin-1, leading to various heart conditions.
Associated Diseases
- Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
- Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
- Dilated Cardiomyopathy (DCM)
- Hypertrophic Cardiomyopathy (HCM)
- Sudden Cardiac Death (SCD)
Did you know?
Calsequestrin-1 is one of the most calcium-binding proteins known, capable of binding up to 40 calcium ions per molecule.
