CASQ2 : calsequestrin 2
Description
The CASQ2 (calsequestrin 2) is a protein-coding gene located on chromosome 1.
The CASQ2 gene provides instructions for making the calsequestrin 2 protein, a key component of heart muscle cells (myocytes). Located in the sarcoplasmic reticulum, a calcium storage center within myocytes, calsequestrin 2 binds and stores most of the calcium ions. It also regulates the RYR2 channel, controlling the release of calcium from the sarcoplasmic reticulum. The heart's rhythmic contractions and relaxations depend on the precise control of calcium ions. In response to signals, calsequestrin 2 releases stored calcium into the cytoplasm, triggering muscle contraction and pumping blood. Subsequently, calcium is transported back into the sarcoplasmic reticulum, allowing the muscle to relax. This cyclical release and reuptake of calcium by calsequestrin 2 ensures a regular heart beat.
CASQ2 encodes a protein called calsequestrin 2, which functions as an internal calcium store within cardiac muscle cells. It binds approximately 60 calcium ions, contributing to the regulation of calcium release through the RYR2 channel. This process is crucial for muscle contraction and plays a critical role in excitation-contraction coupling and heart rate regulation.
CASQ2 is also known as PDIB2.
Associated Diseases
- Catecholaminergic polymorphic ventricular tachycardia
- Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy
- Ventricular tachycardia, catecholaminergic polymorphic, 2
