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Ryr1

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Title: Ryr1  
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Subject: GJB4, GJB3, Q-type calcium channel, Channelopathy, KCNC3
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Ryr1

Ryanodine receptor 1 (skeletal)
PDB rendering based on 2bcx.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols  ; CCO; MHS; MHS1; PPP1R137; RYDR; RYR; RYR-1; SKRR
External IDs IUPHAR: ChEMBL: GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Ryanodine receptor 1 (RYR-1) also known as skeletal muscle calcium release channel or skeletal muscle-type ryanodine receptor is a protein found primarily in skeletal muscle. In humans, it is encoded by the RYR1 gene.[1][2]

Contents

  • Function 1
  • Clinical significance 2
  • Interactions 3
  • See also 4
  • References 5
  • Further reading 6
  • External links 7

Function

RYR1 functions as a calcium release channel in the sarcoplasmic reticulum, as well as a connection between the sarcoplasmic reticulum and the transverse tubule.[3]

Clinical significance

Mutations in the RYR1 gene are associated with malignant hyperthermia susceptibility, central core disease, minicore myopathy with external ophthalmoplegia and samaritan myopathy, a benign congenital myopathy.[4] Alternatively spliced transcripts encoding different isoforms have been demonstrated.[3] Dantrolene may be the only known drug that is effective during cases of malignant hyperthermia.

Interactions

RYR1 has been shown to interact with:

See also

References

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  11. ^ a b c
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Further reading

External links

  • RYR1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
  • GeneReviews/NIH/UW entry on Multiminicore Disease
  • GeneReviews/NCBI/NIH/UW entry on Malignant Hyperthermia Susceptibility
  • RYR1 Variation Database

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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