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Calsequestrin 2 (CASQ2)

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PDIB2; Cardiac Muscle Calsequestrin; Calsequestrin, cardiac muscle isoform

Calsequestrin 2 (CASQ2)
CCC F486
HGNC 1513
MGI 1309469
PubMed 16908766
RGD 2276
UniProt O14958
Wiki CASQ2
Calsequestrin 2 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.
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

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Calsequestrin 2 (CASQ2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Calsequestrin 2 (CASQ2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Calsequestrin 2 (CASQ2) Polyclonal Antibody Customized Service Offer
Assay Kits SEF486Hu ELISA Kit for Calsequestrin 2 (CASQ2) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPF486Mu01 Recombinant Calsequestrin 2 (CASQ2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAF486Mu01 Polyclonal Antibody to Calsequestrin 2 (CASQ2) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Calsequestrin 2 (CASQ2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Calsequestrin 2 (CASQ2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Calsequestrin 2 (CASQ2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Calsequestrin 2 (CASQ2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Calsequestrin 2 (CASQ2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Calsequestrin 2 (CASQ2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Calsequestrin 2 (CASQ2) ELISA Kit Customized Service Offer
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  7. "A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel."Am. J. Hum. Genet. 69:1378-1384(2001) [PubMed] [Europe PMC] [Abstract]
  8. "Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms."Eur. J. Hum. Genet. 11:888-891(2003) [PubMed] [Europe PMC] [Abstract]
  9. "Calsequestrin mutant D307H exhibits depressed binding to its protein targets and a depressed response to calcium."Cardiovasc. Res. 64:227-233(2004) [PubMed] [Europe PMC] [Abstract]
  10. "Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia."Circulation 114:1012-1019(2006) [PubMed] [Europe PMC] [Abstract]
  11. "Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of human cardiac calsequestrin."Biochem. J. 413:291-303(2008) [PubMed] [Europe PMC] [Abstract]