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Ryanodine Receptor 1, Skeletal (RYR1)

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CCO; MHS; MHS1; RYDR; RYR; SKRR; Central Core Disease Of Muscle; Skeletal muscle calcium release channel

Ryanodine Receptor 1, Skeletal (RYR1)
CCC C773
HGNC 10483
MGI 99659
PubMed 19191333
RGD 1586637
UniProt P21817
Wiki RYR1
Ryanodine receptor 1 is a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described.
Communication between transverse-tubules and sarcoplasmic reticulum. Contraction of skeletal muscle is triggered by release of calcium ions from SR following depolarization of T-tubules.Skeletal muscle and brain (cerebellum and hippocampus).

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC773Hu01 Recombinant Ryanodine Receptor 1, Skeletal (RYR1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC773Hu01 Polyclonal Antibody to Ryanodine Receptor 1, Skeletal (RYR1) WB; IHC; ICC; IP.
MAC773Hu21 Monoclonal Antibody to Ryanodine Receptor 1, Skeletal (RYR1) WB; IHC; ICC; IP.
Assay Kits SEC773Hu ELISA Kit for Ryanodine Receptor 1, Skeletal (RYR1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC773Mu01 Recombinant Ryanodine Receptor 1, Skeletal (RYR1) Positive Control; Immunogen; SDS-PAGE; WB.
RPC773Mu02 Recombinant Ryanodine Receptor 1, Skeletal (RYR1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC773Mu01 Polyclonal Antibody to Ryanodine Receptor 1, Skeletal (RYR1) WB; IHC; ICC; IP.
PAC773Mu02 Polyclonal Antibody to Ryanodine Receptor 1, Skeletal (RYR1) WB; IHC; ICC; IP.
Assay Kits SEC773Mu ELISA Kit for Ryanodine Receptor 1, Skeletal (RYR1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC773Ra01 Recombinant Ryanodine Receptor 1, Skeletal (RYR1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC773Ra01 Polyclonal Antibody to Ryanodine Receptor 1, Skeletal (RYR1) WB; IHC; ICC; IP.
MAC773Ra21 Monoclonal Antibody to Ryanodine Receptor 1, Skeletal (RYR1) WB; IHC; ICC; IP.
Assay Kits SEC773Ra ELISA Kit for Ryanodine Receptor 1, Skeletal (RYR1) Enzyme-linked immunosorbent assay for Antigen Detection.
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  48. "Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript."Anesthesiology 99:297-302(2003) [PubMed] [Europe PMC] [Abstract]
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  50. "Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia."Brain 126:2341-2349(2003) [PubMed] [Europe PMC] [Abstract]
  51. "Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles."Clin. Chem. 49:761-768(2003) [PubMed] [Europe PMC] [Abstract]
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  53. "A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia."Hum. Mol. Genet. 12:1171-1178(2003) [PubMed] [Europe PMC] [Abstract]
  54. "Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene." Neuromuscul. Disord. 13:151-157(2003) [PubMed] [Europe PMC] [Abstract]
  55. "Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene."Anesthesiology 101:824-830(2004) [PubMed] [Europe PMC] [Abstract]
  56. "Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization."Arch. Neurol. 61:106-113(2004) [PubMed] [Europe PMC] [Abstract]
  57. "RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene."J. Med. Genet. 41:E33-E33(2004) [PubMed] [Europe PMC] [Abstract]
  58. "Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia."Muscle Nerve 30:114-117(2004) [PubMed] [Europe PMC] [Abstract]
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  60. "Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene."Neurology 65:1930-1935(2005) [PubMed] [Europe PMC] [Abstract]
  61. "Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1."Clin. Genet. 71:93-94(2007) [PubMed] [Europe PMC] [Abstract]
  62. "Central core disease due to recessive mutations in RYR1 gene: is it more common than described?"Muscle Nerve 35:670-674(2007) [PubMed] [Europe PMC] [Abstract]
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  64. "Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores."Hum. Mutat. 29:670-678(2008) [PubMed] [Europe PMC] [Abstract]
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  66. "Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease."Anesth. Analg. 111:185-190(2010) [PubMed] [Europe PMC] [Abstract]
  67. "Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion."Hum. Mutat. 31:E1544-E1550(2010) [PubMed] [Europe PMC] [Abstract]
  68. "Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families."Clin. Genet. 79:438-447(2011) [PubMed] [Europe PMC] [Abstract]
  69. "Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms."Muscle Nerve 44:102-108(2011) [PubMed] [Europe PMC] [Abstract]
  70. "Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families."Anesthesiology 119:1054-1065(2013) [PubMed] [Europe PMC] [Abstract]
  71. "Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States."Anesth. Analg. 116:1078-1086(2013) [PubMed] [Europe PMC] [Abstract]
  72. "Novel RYR1 missense mutations in six Chinese patients with central core disease."Neurosci. Lett. 566:32-35(2014) [PubMed] [Europe PMC] [Abstract]