Phospho-RyR-2 (S2808) Polyclonal Antibody, 100µg, (ATB-P0967)

Description

Background:

This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]

Calcium channel that mediates the release of Ca²⁺ from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca²⁺ levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development.

Product datasheet:

References:

1. RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort. Akilzhanova A, et al. PLoS One, 2014. PMID 24978818 Free PMC Article
2. Effects of individualized exercise training in patients with catecholaminergic polymorphic ventricular tachycardia type 1. Manotheepan R, et al. Am J Cardiol, 2014 Jun 1. PMID 24837260
3. Postmortem genetic screening of SNPs in RyR2 gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population. Huang L, et al. Forensic Sci Int, 2014 Feb. PMID 24447446
4. Genetic ablation of ryanodine receptor 2 phosphorylation at Ser-2808 aggravates Ca(2+)-dependent cardiomyopathy by exacerbating diastolic Ca2+ release. Liu B, et al. J Physiol, 2014 May 1. PMID 24445321
5. A de novo novel cardiac ryanodine mutation (Ser4155Tyr) associated with catecholaminergic polymorphic ventricular tachycardia. Mantziari L, et al. Ann Noninvasive Electrocardiol, 2013 Nov. PMID 24147812
6. The human cardiac muscle ryanodine receptor-calcium release channel: identification, primary structure and topological analysis.
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7. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).
   Tiso N., Stephan D.A., Nava A., Bagattin A., Devaney J.M., Stanchi F., Larderet G., Brahmbhatt B., Brown K., Bauce B., Muriago M., Basso C., Thiene G., Danieli G.A., Rampazzo A.
   Hum. Mol. Genet. 10:189-194(2001) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ARVD2 GLN-176; PRO-433; ILE-2386 AND MET-2504.
8. The DNA sequence and biological annotation of human chromosome 1.
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   Nature 441:315-321(2006) [PubMed] [Europe PMC]

   Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

9. Differential expression of ryanodine receptor RyR2 mRNA in the non-pregnant and pregnant human myometrium.
   Awad S.S., Lamb H.K., Morgan J.M., Dunlop W., Gillespie J.I.
   Biochem. J. 322:777-783(1997) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 9-87 AND 533-681, DEVELOPMENTAL STAGE, INDUCTION BY TGFB1. Tissue: Heart muscle and Myometrium.
10. Partial cloning and differential expression of ryanodine receptor/calcium-release channel genes in human tissues including the hippocampus and cerebellum.
    Martin C., Chapman K.E., Seckl J.R., Ashley R.H.
    Neuroscience 85:205-216(1998) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 4292-4479, TISSUE SPECIFICITY. Tissue: Cerebellum and Hippocampus.