RYR1 Antibody

Code CSB-PA020619LA01HU
Size US$166
Order now
  • Immunofluorescent analysis of HepG2 cells using CSB-PA020619LA01HU at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L)

The Latest Promotion Free Antibody trial simple
Have Questions? Leave a Message or Start an on-line Chat

Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) RYR1 Polyclonal antibody
Uniprot No.
Target Names
Alternative Names
CCO antibody; Central core disease of muscle antibody; MHS antibody; MHS1 antibody; PPP1R137 antibody; Protein phosphatase 1 regulatory subunit 137 antibody; Ryanodine receptor 1 antibody; RYDR antibody; RYR antibody; RYR-1 antibody; RyR1 antibody; RYR1_HUMAN antibody; sarcoplasmic reticulum calcium release channel antibody; Skeletal muscle calcium release channel antibody; Skeletal muscle ryanodine receptor antibody; Skeletal muscle-type ryanodine receptor antibody; SKRR antibody; Type 1 ryanodine receptor antibody
Raised in
Species Reactivity
Recombinant Human Ryanodine receptor 1 protein (1-534AA)
Immunogen Species
Homo sapiens (Human)

The RYR1 Antibody (Product code: CSB-PA020619LA01HU) is Non-conjugated. For RYR1 Antibody with conjugates, please check the following table.

Available Conjugates
Conjugate Product Code Product Name Application
HRP CSB-PA020619LB01HU RYR1 Antibody, HRP conjugated ELISA
FITC CSB-PA020619LC01HU RYR1 Antibody, FITC conjugated
Biotin CSB-PA020619LD01HU RYR1 Antibody, Biotin conjugated ELISA
Purification Method
>95%, Protein G purified
It differs from different batches. Please contact us to confirm it.
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
Tested Applications
Recommended Dilution
Application Recommended Dilution
IF 1:50-1:200
Troubleshooting and FAQs
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

Customer Reviews and Q&A

 Customer Reviews

There are currently no reviews for this product.

Submit a Review here

Target Background

Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm. Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis.
Gene References into Functions
  1. Segregation analysis is of limited value in assessing pathogenicity of RYR1 variants in malignant hyperthermia PMID: 28403410
  2. 49 RYR1 variants were identified in 47 cases. In recessive cases, facial weakness, neonatal hypotonia, ophthalmoplegia/paresis, ptosis, and scapular winging were more frequently observed than in dominant/de novo cases. Variant mapping revealed patterns of clinical severity across RyR1 domains, including a structural plane of interest within the RyR1 cytosolic shell, in which 84% of variants affected the bridging solenoid. PMID: 30155738
  3. Our FRET-based HTS detects RyR binding of accessory proteins calmodulin (CaM) or FKBP12.6...One compound increased FRET and inhibited RyR1, which was only significant at nM [Ca(2+)], and accentuated without CaM present. PMID: 27760856
  4. Mutations in RYR1 should be considered as a significant cause of rhabdomyolysis and myalgia syndrome in patients with the characteristic combination of rhabdomyolysis, myalgia and cramps, creatine kinase elevation, no weakness and often muscle hypertrophy PMID: 29635721
  5. The ryanodine receptor 1 (RyR1) is mainly expressed in the sarcoplasmic reticulum (SR) of skeletal muscle and is a calcium release channel which is coupled to the dihydropyridine receptor in the T-tubule of the sarcolemma. PMID: 27147545
  6. in our series subarachnoid hemorrhage patients have an increased frequency of rare RYR1 variants PMID: 28750945
  7. Findings signal a potential association between malignant hyperthermia (MH) susceptibility and exertional rhabdomyolysis (ER); the presence of MH-causative mutations and putative deleterious RYR1 variants in ER patients without a history of adverse anesthetic reactions suggests their possible increased risk for MH PMID: 28326467
  8. Thus, RYR1 mutations may lead to prolonged bleeding by altering vascular smooth muscle cell function. The reversibility of the bleeding phenotype emphasizes the potential therapeutic value of dantrolene in the treatment of such bleeding disorders. PMID: 27382027
  9. Results show that in disease-associated RYR1 mutations, there is increased gain and Ca(2+) sensitivity for activation in a site-specific manner which suggest that divergent CICR (Ca(2+) -induced Ca(2+) release) activity may cause various disease phenotypes by specific mutations. PMID: 27586648
  10. the RYR1 SNP rs35364374 was not associated with Aneurysmal Subarachnoid Hemorrhage or its clinical squeal. PMID: 28087430
  11. level of myotubes MTM1 mutations do not dramatically affect calcium homeostasis and calcium release mediated through the ryanodine receptor 1, though they do affect myotube size and nuclear content..mature muscles such as those obtained from patient muscle biopsies exhibit a significant decrease in expression of the ryanodine receptor 1, a decrease in muscle-specific microRNAs and a considerable up-regulation of HDAC4. PMID: 28007904
  12. Allosteric mechanism of RyR1, including a key interaction between a peripheral domain and the Ca-binding EF hand domain PMID: 26492335
  13. fetuses with lethal myopathy were compound heterozygous for a paternally inherited missense variant (c.2113G > A; p.Gly705Arg) and a novel maternally inherited truncating frameshift deletion (c.8843delC; p.Ser2948Cysfs*58) PMID: 27616680
  14. Data suggest that reduced SOICR (store overload-induced Ca2+ release) threshold is a common defect of malignant hyperthermia- or central core disease-associated RyR1 mutations; carvedilol (a beta-blocker), like dantrolene (a central muscle relaxant), can suppress RyR1-mediated SOICR. Here, human disease-associated point mutations were induced in recombinant rabbit RyR1 via site-directed mutagenesis. PMID: 28687594
  15. results suggest that nine RyR1 mutants associated with skeletal muscle diseases were differently regulated by Ca(2+) and Mg(2+) Four malignant hyperthermia-associated RyR1 mutations in the S2-S3 loop conferred RyR2-type Ca(2+)- and Mg(2+)-dependent channel regulation PMID: 27558158
  16. This review summarizes the progress in the structural determination of RyR by cryoEM and, bearing in mind the leap in resolution provided by the recent implementation of direct electron detection, analyzes the first near-atomic structures of RyR. PMID: 27671094
  17. Data indicate that unlike ryanodine receptor RyRs, inositol 145-trisphosphate receptor IP3Rs are present and continually functional at early stages of cardiomyocyte differentiation. PMID: 27430888
  18. This study reveled that One novel (p.L4578V) and heterozygous missense mutations in RYR1 were identified in 7 chines patients. PMID: 26799446
  19. CaM and S100A1 can concurrently bind to and functionally modulate RyR1 and RyR2, but this does not involve direct competition at the RyR CaM binding site. PMID: 27226555
  20. the RYR1 gene has previously been implicated in the pathogenesis of malignant hyperthermia, (1) this particular variant has only been reported in one other case of malignant hyperthermia PMID: 27555149
  21. this is the first case of a patient with central core disease, carrying a RYR1 mutation in a Korean large family, who had concurrent familial hemophagocytic lymphohistiocytosis. PMID: 25521991
  22. The results provide an intriguing perspective of involvement of misregulated RyR1 splicing in muscular disease. PMID: 26531141
  23. Study describes the important role of RYR1 in skeletal muscle and as a susceptibility locus for malignant hyperthermia and other drug-induced myopathies. [review] PMID: 26709912
  24. This study demonstrated that the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia. PMID: 26631338
  25. Data show that the local Ca(2+) signals observed within 20 ms upon microinjection of Jurkat cells with nicotinic acid adenine dinucleotide phosphate (NAADP) were sensitive to type 1 ryanodine receptor (RyR1) knockdown. PMID: 26462735
  26. A single nucleotide variant in the RYR1 gene is one of the responsible genes of idiopathic hyper CK-emia (persistent elevation of serum creatine kinase). PMID: 26119398
  27. We report 2 siblings with congenital ptosis and scoliosis who were considered for ptosis surgery but were found to harbor underlying recessive RYR1 mutations. PMID: 26691049
  28. Studies indicate that the ryanodine receptors (RyRs: RyR1, RyR2, RyR3) and inositol 1,4,5-trisphosphate receptors (IP3Rs: IP3R1, IP3R2, IP3R3) are the major Ca(2+) release channels (CRCs) on the endo/sarcoplasmic reticulum (ER/SR). PMID: 25966694
  29. High-intensity interval training exercise induces a ROS-dependent RyR1 fragmentation in muscles of recreationally active subjects, and the resulting changes in muscle fiber Ca(2+)-handling trigger muscular adaptations PMID: 26575622
  30. This study demonistrated that RYR1 mutation releated to Centronuclear myopathy. PMID: 25957634
  31. Phenotype-genotype correlation analysis in 4 families and review of available reports on association of the p.Tyr3933Cys allele with malignant hyperthermia (MH) as well as congenital core myopathies indicates an allelic association with MH susceptibility PMID: 25958340
  32. unlike RyR1 normal WT RyR2 does not bind dantrolene in spite of the fact that the RyR1 dantrolene-binding site (residues 590-609) is conserved in RyR2 PMID: 26009179
  33. investigated spectrum of RYR-1 related disorders in a retrospective cohort study. 61 different mutations were detected, of which 24 were novel. Some mutations are present in both dominant (MHS) and recessive modes (congenital myopathy) of inheritance PMID: 25960145
  34. SPRY2 domain forms two antiparallel beta sheets establishing a core, and four additional modules of which several are required for proper folding PMID: 25370123
  35. Large deletions in the RYR1 gene have been reported in only two cases. Report underlines the broadening spectrum in myopathologic disorders and highlights the concept of 'RYR1-associated/related core myopathies'. PMID: 25747005
  36. Mutations of p.Arg2508 in RYR1 were linked to malignant hyperthermia. PMID: 26381711
  37. RYR1 mutations have to be considered in patients presenting with fever-induced rhabdomyolysis, particularly if recurrent, even without a personal or familial history of MHS. PMID: 25081049
  38. Study reports a homozygous RYR1 null mutation and expand the range of RYR1-related phenotypes to include early lethal foetal akinesia deformation sequence/lethal multiple pterygium syndrome PMID: 25476234
  39. The RyR2-H29D mutation is associated with a clinical phenotype of short-coupled PMVT at rest PMID: 25463374
  40. the authors identified three pathogenic and four novel RYR1 variants, with a further five RYR1 variants previously reported in association with Malignant Hyperthermia PMID: 25658027
  41. RYR1-related myopathy is one of the most frequent causes of congenital myopathy. PMID: 24706162
  42. Patients with one RYR1 mutation displayed significantly higher contractures in the in vitro contracture test than patients without RYR1 mutations PMID: 25047158
  43. R2452W ryanodine receptor variant is associated with malignant hyperthermia. PMID: 25086907
  44. Calcium-dependent energetics of calmodulin domain interactions with regulatory regions of the RYR1 has been characterized. PMID: 25145833
  45. RYR1 causative mutations were identified in six persons. Trends indicated higher mutation identification in those with more definitive clinical episodes of malignant hyperthermia and stronger in vitro contracture test responses. PMID: 25735680
  46. we sequenced the ryanodine receptor 1 (RYR1) gene in 47 patients with DMD searching for malignant hyperthermia causative mutations in the skeletal muscle RYR1 gene PMID: 24557023
  47. Aberrant splicing of RYR1 may alter intracellular Ca(2+) signalling in myotonic dystrophy 1 and 2 myotubes. The differing dysregulation of intracellular Ca(2+) handling in DM1 and DM2 may explain their distinct sarcolemmal hyperexcitabilities. PMID: 23888875
  48. RYR1 missense mutations were identified in 85% of patients with central core disease and were found to cluster in exons 100-102. PMID: 24561095
  49. Ryr1-3 genes all show evvects of positive and purifying selection, as well as correlated evolution with dihydropyridine receptor. PMID: 24254650
  50. R2355W can be included in the list of causative mutations for malignant hyperthermia. V2354M might be a causative mutation. PMID: 24361844

Show More

Hide All

Involvement in disease
Malignant hyperthermia 1 (MHS1); Central core disease of muscle (CCD); Multiminicore disease with external ophthalmoplegia (MMDO)
Subcellular Location
Sarcoplasmic reticulum membrane; Multi-pass membrane protein. Sarcoplasmic reticulum.
Protein Families
Ryanodine receptor (TC 1.A.3.1) family, RYR1 subfamily
Tissue Specificity
Skeletal muscle and brain (cerebellum and hippocampus).
Database Links

HGNC: 10483

OMIM: 117000

KEGG: hsa:6261

STRING: 9606.ENSP00000352608

UniGene: Hs.466664

icon of phone
Call us
301-363-4651 (Available 9 a.m. to 5 p.m. CST from Monday to Friday)
icon of address
7505 Fannin St., Ste 610, Room 7 (CUBIO Innovation Center), Houston, TX 77054, USA
icon of social media
Join us with

Subscribe newsletter

Leave a message

* To protect against spam, please pass the CAPTCHA test below.
CAPTCHA verification
© 2007-2024 CUSABIO TECHNOLOGY LLC All rights reserved. 鄂ICP备15011166号-1
Place an order now

I. Product details


II. Contact details


III. Ship To


IV. Bill To