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Aliases for RYR1 Gene

Aliases for RYR1 Gene

  • Ryanodine Receptor 1 (Skeletal) 2 3
  • Skeletal Muscle Calcium Release Channel 3 4
  • Skeletal Muscle Ryanodine Receptor 3 4
  • Central Core Disease Of Muscle 2 3
  • RYR-1 3 4
  • RYDR 3 4
  • CCO 3 6
  • MHS 3 6
  • Sarcoplasmic Reticulum Calcium Release Channel 3
  • Protein Phosphatase 1, Regulatory Subunit 137 3
  • Skeletal Muscle-Type Ryanodine Receptor 4
  • Type 1-Like Ryanodine Receptor 3
  • Type 1 Ryanodine Receptor 4
  • Regulatory Subunit 137 2
  • Protein Phosphatase 1 2
  • Ryanodine Receptor 1 3
  • PPP1R137 3
  • SKRR 3
  • MHS1 3
  • RyR1 4
  • RYR 3

External Ids for RYR1 Gene

Previous Symbols for RYR1 Gene

  • MHS
  • MHS1
  • CCO

Summaries for RYR1 Gene

Entrez Gene Summary for RYR1 Gene

  • This gene encodes 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for RYR1 Gene

RYR1 (Ryanodine Receptor 1 (Skeletal)) is a Protein Coding gene. Diseases associated with RYR1 include minicore myopathy with external ophthalmoplegia and multiminicore disease. Among its related pathways are CREB Pathway and Activation of cAMP-Dependent PKA. GO annotations related to this gene include calcium ion binding and protease binding. An important paralog of this gene is RYR3.

UniProtKB/Swiss-Prot for RYR1 Gene

  • 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 (By similarity).

Gene Wiki entry for RYR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RYR1 Gene

Genomics for RYR1 Gene

Genomic Location for RYR1 Gene

Start:
38,433,699 bp from pter
End:
38,587,564 bp from pter
Size:
153,866 bases
Orientation:
Plus strand

Genomic View for RYR1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RYR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RYR1 Gene

Regulatory Elements for RYR1 Gene

Proteins for RYR1 Gene

  • Protein details for RYR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21817-RYR1_HUMAN
    Recommended name:
    Ryanodine receptor 1
    Protein Accession:
    P21817
    Secondary Accessions:
    • Q16314
    • Q16368
    • Q9NPK1
    • Q9P1U4

    Protein attributes for RYR1 Gene

    Size:
    5038 amino acids
    Molecular mass:
    565176 Da
    Quaternary structure:
    • Homotetramer. Can also form heterotetramers with RYR2. Interacts with CALM; CALM with bound calcium inhibits the RYR1 channel activity. Interacts with S100A1. Interacts with FKBP1A; this stabilizes the closed conformation of the channel. Interacts with CACNA1S; interaction with CACNA1S is important for activation of the RYR1 channel. Interacts with CACNB1. Interacts with TRDN and ASPH; these interactions stimulate RYR1 channel activity (By similarity). Identified in a complex composed of RYR1, PDE4D, PKA, FKBP1A and protein phosphatase 1 (PP1). Repeated very high-level exercise decreases interaction with PDE4D and protein phosphatase 1 (PP1).
    Miscellaneous:
    • Channel activity is modulated by the alkaloid ryanodine that binds to the open Ca-release channel with high affinity. At low concentrations, ryanodine maintains the channel in an open conformation. High ryanodine concentrations inhibit channel activity. Channel activity is regulated by calmodulin (CALM). The calcium release is activated by increased cytoplasmic calcium levels, by nitric oxyde (NO), caffeine and ATP. Channel activity is inhibited by magnesium ions, possibly by competition for calcium binding sites (By similarity).
    • Coexpression of normal and mutant Thr-4898 RYR1 in a 1:1 ratio, produces RYR1 channels with normal halothane and caffeine sensitivities, but maximal levels of Ca(2+) release are reduced by 67%. Binding of [3H]ryanodine indicates that the heterozygous channel is activated by Ca(2+) concentrations 4-fold lower than normal. Single-cell analysis of cotransfected cells shows a significantly increased resting cytoplasmic Ca(2+) level and a significantly reduced luminal Ca(2+) level. These data indicated a leaky channel, possibly caused by a reduction in the Ca(2+) concentration required for channel activation. Comparison with 2 other coexpressed mutant/normal channels suggests that the Thr-4898 mutation produces one of the most abnormal RYR1 channels that has been investigated, and this level of abnormality is reflected in the severe and penetrant phenotype of affected CCD individuals

    Alternative splice isoforms for RYR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RYR1 Gene

Proteomics data for RYR1 Gene at MOPED

Post-translational modifications for RYR1 Gene

  • Activated by reversible S-nitrosylation. Repeated very high-level exercise increases S-nitrosylation.
  • Channel activity is modulated by phosphorylation. Phosphorylation at Ser-2843 may increase channel activity. Repeated very high-level exercise increases phosphorylation at Ser-2843.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys2069

Other Protein References for RYR1 Gene

No data available for DME Specific Peptides for RYR1 Gene

Domains for RYR1 Gene

Gene Families for RYR1 Gene

HGNC:
  • RYR :Ion channels / Ryanodine receptors
IUPHAR :

UniProtKB/Swiss-Prot:

RYR1_HUMAN
Domain:
  • The calcium release channel activity resides in the C-terminal region while the remaining part of the protein constitutes the foot structure spanning the junctional gap between the sarcoplasmic reticulum (SR) and the T-tubule.:
    • P21817
  • Contains 3 B30.2/SPRY domains.:
    • P21817
  • Contains 5 MIR domains.:
    • P21817
Family:
  • Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR1 subfamily.:
    • P21817
genes like me logo Genes that share domains with RYR1: view

Function for RYR1 Gene

Molecular function for RYR1 Gene

GENATLAS Biochemistry: ryanodine receptor 1,controlling intracellular Ca2+ levels by releasing Ca2+ from the sarcoplasmic reticulum,expressed in skeletal and cardiac muscle,and involved in the control of cellular activities of B cells,triggered by the dehydrine receptor(s)
UniProtKB/Swiss-Prot Function: 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 (By similarity).

Gene Ontology (GO) - Molecular Function for RYR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IEA --
GO:0005216 ion channel activity --
GO:0005219 ryanodine-sensitive calcium-release channel activity TAS 19095005
GO:0005245 voltage-gated calcium channel activity ISS --
GO:0005262 calcium channel activity ISS --
genes like me logo Genes that share ontologies with RYR1: view
genes like me logo Genes that share phenotypes with RYR1: view

Animal Models for RYR1 Gene

MGI Knock Outs for RYR1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for RYR1 Gene

Localization for RYR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RYR1 Gene

Sarcoplasmic reticulum membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Note=The number of predicted transmembrane domains varies between orthologs, but both N-terminus and C-terminus seem to be cytoplasmic.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RYR1 Gene COMPARTMENTS Subcellular localization image for RYR1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
cytosol 2
extracellular 2
mitochondrion 2
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for RYR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11206130
GO:0005790 smooth endoplasmic reticulum IEA --
GO:0005886 plasma membrane IDA 11206130
GO:0005887 integral component of plasma membrane TAS 2298749
GO:0005938 cell cortex IDA 11206130
genes like me logo Genes that share ontologies with RYR1: view

Pathways for RYR1 Gene

genes like me logo Genes that share pathways with RYR1: view

Gene Ontology (GO) - Biological Process for RYR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IDA 19120137
GO:0003151 outflow tract morphogenesis ISS --
GO:0006811 ion transport --
GO:0006816 calcium ion transport ISS --
GO:0006874 cellular calcium ion homeostasis --
genes like me logo Genes that share ontologies with RYR1: view

Compounds for RYR1 Gene

(5) Tocris Compounds for RYR1 Gene

Compound Action Cas Number
(-)-Xestospongin C Inhibits IP3-mediated Ca2+ release [88903-69-9]
Ionomycin calcium salt Calcium ionophore [56092-82-1]
NAADP tetrasodium salt Ca2+ mobilizing agent [5502-96-5]
Ryanodine Ca2+ release inhibitor [15662-33-6]
trans-Ned 19 NAADP antagonist; inhibits Ca2+ release [1354235-96-3]

(2) HMDB Compounds for RYR1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Magnesium
  • Magnesium
7439-95-4

(3) Drugbank Compounds for RYR1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Caffeine
  • Cafeina
58-08-2 target
Dantrolene
  • Dantrolene Sodium
7261-97-4 target antagonist
Suramin
  • Bayer 205
145-63-1 target agonist

(9) IUPHAR Ligand for RYR1 Gene

Ligand Type Action Affinity Pubmed IDs
ATP Activator None
ryanodine Activator None
suramin Activator None
procaine Channel blocker None
caffeine Activator None
Ca2+ Antagonist Antagonist
ruthenium red Channel blocker None
Mg2+ Antagonist Antagonist
dantrolene Antagonist Antagonist

(98) Novoseek inferred chemical compound relationships for RYR1 Gene

Compound -log(P) Hits PubMed IDs
ryanodine 98.3 227
4-chloro-m-cresol 90.6 50
dihydropyridine 88.3 81
calcium 84 278
pcb 95 83.8 1

(9) PharmGKB related drug/compound annotations for RYR1 Gene

genes like me logo Genes that share compounds with RYR1: view

Transcripts for RYR1 Gene

Unigene Clusters for RYR1 Gene

Ryanodine receptor 1 (skeletal):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RYR1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37a · 37b ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

ExUns: 51 ^ 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58a · 58b ^ 59 ^ 60 ^ 61a · 61b · 61c ^ 62 ^ 63 ^ 64 ^ 65 ^ 66 ^ 67 ^ 68 ^ 69 ^ 70
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:

Relevant External Links for RYR1 Gene

GeneLoc Exon Structure for
RYR1
ECgene alternative splicing isoforms for
RYR1

Expression for RYR1 Gene

mRNA expression in normal human tissues for RYR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RYR1 Gene

This gene is overexpressed in Muscle - Skeletal (45.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for RYR1 Gene

SOURCE GeneReport for Unigene cluster for RYR1 Gene Hs.466664

mRNA Expression by UniProt/SwissProt for RYR1 Gene

P21817-RYR1_HUMAN
Tissue specificity: Skeletal muscle and brain (cerebellum and hippocampus).
genes like me logo Genes that share expressions with RYR1: view

Orthologs for RYR1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RYR1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RYR1 36
  • 99.36 (n)
  • 99.56 (a)
RYR1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RYR1 36
  • 90.91 (n)
  • 95.97 (a)
RYR1 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RYR1 36
  • 92.12 (n)
  • 97.18 (a)
RYR1 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ryr1 36
  • 88.23 (n)
  • 95.56 (a)
Ryr1 16
Ryr1 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RYR1 37
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RYR1 37
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ryr1 36
  • 88 (n)
  • 95.42 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 85 (a)
OneToMany
-- 37
  • 84 (a)
OneToMany
-- 37
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.13303 36
zebrafish
(Danio rerio)
Actinopterygii ryr1a 37
  • 76 (a)
OneToMany
ryr1b 37
  • 76 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rya-r44F 38
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-68 38
  • 40 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.9269 36
Species with no ortholog for RYR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RYR1 Gene

ENSEMBL:
Gene Tree for RYR1 (if available)
TreeFam:
Gene Tree for RYR1 (if available)

Paralogs for RYR1 Gene

Paralogs for RYR1 Gene

genes like me logo Genes that share paralogs with RYR1: view

Variants for RYR1 Gene

Sequence variations from dbSNP and Humsavar for RYR1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs892052 -- 38,517,858(+) TCACA(A/G)CTGTA intron-variant
rs892053 -- 38,441,746(+) GGGGA(A/C/G)GTTTC intron-variant
rs892054 untested 38,444,619(+) GTTGA(C/T)GCTTC reference, synonymous-codon
rs908644 untested 38,528,088(+) CCTGG(C/G)TCGTG intron-variant
rs919781 untested 38,434,174(+) CCATC(C/T)TGGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RYR1 Gene

Variant ID Type Subtype PubMed ID
nsv833822 CNV Loss 17160897
nsv911658 CNV Loss 21882294
nsv470140 CNV Gain 18288195
nsv911659 CNV Loss 21882294
nsv911660 CNV Gain 21882294
nsv833823 CNV Loss 17160897
dgv3858n71 CNV Loss 21882294
nsv833824 CNV Loss 17160897
nsv911664 CNV Loss 21882294
esv2664482 CNV Deletion 23128226
nsv833826 CNV Loss 17160897
nsv911666 CNV Loss 21882294
nsv2479 CNV Insertion 18451855
esv2718533 CNV Deletion 23290073
esv2718534 CNV Deletion 23290073
nsv833827 CNV Gain 17160897
nsv138081 CNV Insertion 16902084
nsv513526 CNV Insertion 21212237
esv2452159 CNV Insertion 19546169
nsv513527 CNV Insertion 21212237
esv1437952 CNV Insertion 17803354
nsv521114 CNV Loss 19592680

Relevant External Links for RYR1 Gene

HapMap Linkage Disequilibrium report
RYR1
Human Gene Mutation Database (HGMD)
RYR1
Locus Specific Mutation Databases (LSDB)
RYR1

Disorders for RYR1 Gene

(3) OMIM Diseases for RYR1 Gene (180901)

UniProtKB/Swiss-Prot

RYR1_HUMAN
  • Malignant hyperthermia 1 (MHS1) [MIM:145600]: Autosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to anesthesia. In susceptible people, an MH episode can be triggered by all commonly used inhalational anesthetics such as halothane and by depolarizing muscle relaxants such as succinylcholine. The clinical features of the myopathy are hyperthermia, accelerated muscle metabolism, contractures, metabolic acidosis, tachycardia and death, if not treated with the postsynaptic muscle relaxant, dantrolene. Susceptibility to MH can be determined with the in vitro contracture test (IVCT): observing the magnitude of contractures induced in strips of muscle tissue by caffeine alone and halothane alone. Patients with normal response are MH normal (MHN), those with abnormal response to caffeine alone or halothane alone are MH equivocal (MHE(C) and MHE(H) respectively). {ECO:0000269 PubMed:10051009, ECO:0000269 PubMed:10484775, ECO:0000269 PubMed:10612851, ECO:0000269 PubMed:10823104, ECO:0000269 PubMed:10888602, ECO:0000269 PubMed:11241852, ECO:0000269 PubMed:11389482, ECO:0000269 PubMed:11525881, ECO:0000269 PubMed:11575529, ECO:0000269 PubMed:11928716, ECO:0000269 PubMed:12059893, ECO:0000269 PubMed:12066726, ECO:0000269 PubMed:12123492, ECO:0000269 PubMed:12208234, ECO:0000269 PubMed:12411788, ECO:0000269 PubMed:12709367, ECO:0000269 PubMed:12883402, ECO:0000269 PubMed:1354642, ECO:0000269 PubMed:14732627, ECO:0000269 PubMed:14985404, ECO:0000269 PubMed:15221887, ECO:0000269 PubMed:15448513, ECO:0000269 PubMed:16163667, ECO:0000269 PubMed:1774074, ECO:0000269 PubMed:19191329, ECO:0000269 PubMed:20142353, ECO:0000269 PubMed:20681998, ECO:0000269 PubMed:23558838, ECO:0000269 PubMed:24013571, ECO:0000269 PubMed:7751854, ECO:0000269 PubMed:7849712, ECO:0000269 PubMed:7881417, ECO:0000269 PubMed:8012359, ECO:0000269 PubMed:9066328, ECO:0000269 PubMed:9138151, ECO:0000269 PubMed:9389851, ECO:0000269 PubMed:9450902, ECO:0000269 PubMed:9497245}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Central core disease of muscle (CCD) [MIM:117000]: Autosomal dominant congenital myopathy, but a severe autosomal recessive form also exists. Both clinical and histological variability is observed. Affected individuals typically display hypotonia and proximal muscle weakness in infancy, leading to the delay of motor milestones. The clinical course of the disorder is usually slow or nonprogressive in adulthood, and the severity of the symptoms may vary from normal to significant muscle weakness. Microscopic examination of CCD-affected skeletal muscle reveals a predominance of type I fibers containing amorphous-looking areas (cores) that do not stain with oxidative and phosphorylase histochemical techniques. {ECO:0000269 PubMed:10051009, ECO:0000269 PubMed:10097181, ECO:0000269 PubMed:11113224, ECO:0000269 PubMed:11709545, ECO:0000269 PubMed:11741831, ECO:0000269 PubMed:12112081, ECO:0000269 PubMed:12136074, ECO:0000269 PubMed:12565913, ECO:0000269 PubMed:12566385, ECO:0000269 PubMed:12937085, ECO:0000269 PubMed:14670767, ECO:0000269 PubMed:14985404, ECO:0000269 PubMed:17204054, ECO:0000269 PubMed:17226826, ECO:0000269 PubMed:18253926, ECO:0000269 PubMed:18312400, ECO:0000269 PubMed:20142353, ECO:0000269 PubMed:21674524, ECO:0000269 PubMed:23558838, ECO:0000269 PubMed:24561095, ECO:0000269 PubMed:7829078, ECO:0000269 PubMed:8220422, ECO:0000269 PubMed:8220423, ECO:0000269 PubMed:9497245}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320]: Clinically heterogeneous neuromuscular disorder. General features include neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable. Muscle biopsy shows multiple, poorly circumscribed, short areas of sarcomere disorganization and mitochondria depletion (areas termed minicores) in most muscle fibers. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present in multiminicore disease. {ECO:0000269 PubMed:12719381, ECO:0000269 PubMed:16380615}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]: A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. {ECO:0000269 PubMed:20583297}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in RYR1 may be a cause of Samaritan myopathy, a congenital myopathy with benign course. Patients display severe hypotonia and respiratory distress at birth. Unlike other congenital myopathies, the health status constantly improves and patients are minimally affected at adulthood.

(4) University of Copenhagen DISEASES for RYR1 Gene

(36) Novoseek inferred disease relationships for RYR1 Gene

Disease -log(P) Hits PubMed IDs
central core disease 96.4 79
myopathy, congenital 86.4 14
ventricular tachycardia, catecholaminergic polymorphic 75 7
muscle contracture 71 2
contracture 70.7 9

Relevant External Links for RYR1

GeneTests
RYR1
GeneReviews
RYR1
Genetic Association Database (GAD)
RYR1
Human Genome Epidemiology (HuGE) Navigator
RYR1
genes like me logo Genes that share disorders with RYR1: view

Publications for RYR1 Gene

  1. The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia. (PMID: 7881417) Phillips M.S. … McLennan D.H. (Hum. Mol. Genet. 1994) 3 4 23 49
  2. Increasing the number of diagnostic mutations in malignant hyperthermia. (PMID: 19191329) Levano S. … Girard T. (Hum. Mutat. 2009) 3 4 23 49
  3. Genetic variation in RYR1 and malignant hyperthermia phenotypes. (PMID: 19648156) Carpenter D. … Hopkins P.M. (Br J Anaesth 2009) 3 23 49
  4. Central core disease due to recessive mutations in RYR1 gene: is it more common than described? (PMID: 17226826) Kossugue P.M. … Vainzof M. (Muscle Nerve 2007) 3 4 23
  5. Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. (PMID: 18253926) Monnier N. … Lunardi J. (Hum. Mutat. 2008) 3 4 23

Products for RYR1 Gene

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