CASQ2 Antibody – Mouse Monoclonal

The protein encoded by this gene specifies the cardiac muscle family member of the calsequestrin family. Calsequestrin is localized to the sarcoplasmic reticulum in cardiac and slow skeletal muscle cells. The protein is a calcium binding protein that stores calcium for muscle function. Mutations in this gene cause stress-induced polymorphic ventricular tachycardia, also referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2), a disease characterized by bidirectional ventricular tachycardia that may lead to cardiac arrest. [provided by RefSeq, Jul 2008]

calsequestrin 2: Calsequestrin is a high-capacity, moderate affinity, calcium-binding protein and thus acts as an internal calcium store in muscle. The release of calcium bound to calsequestrin through a calcium release channel triggers muscle contraction. The skeletal muscle isoform (CASQ1) binds around 80 Ca(2+) ions, while the cardiac isoform (CASQ2) binds approximately 60 Ca(2+) ions. Defects in CASQ2 are the cause of catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2); also known as stress-induced polymorphic ventricular tachycardia (VTSIP). CPVT2 is an autosomal recessive form of arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Belongs to the calsequestrin family.

Protein type: Calcium-binding

Chromosomal Location of Human Ortholog: 1p13.1

Cellular Component: sarcoplasmic reticulum membrane; sarcoplasmic reticulum lumen; sarcoplasmic reticulum; junctional membrane complex; cytoplasm; voltage-gated calcium channel complex; intracellular; Z disc

Molecular Function: protein binding; protein homodimerization activity; calcium ion binding; calcium-dependent protein binding

Biological Process: protein polymerization; striated muscle contraction; regulation of heart rate; negative regulation of potassium ion transport; sequestering of calcium ion; sarcomere organization; detection of calcium ion; transmembrane transport; cardiac muscle contraction

Disease: Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy; Ventricular Tachycardia, Catecholaminergic Polymorphic, 2