Orphanet: ryanodine receptor 1
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RYR1 - ryanodine receptor 1

  • Synonym(s) : PPP1R137, protein phosphatase 1, regulatory subunit 137, RYR
  • Previous symbols and names : CCO, MHS, MHS1, central core disease of muscle, ryanodine receptor 1 (skeletal)
  • Type : gene with protein product
  • Chromosomal location : 19q13.2
  • OMIM: 180901
  • HGNC: 10483
  • UniProtKB: P21817
  • Genatlas: RYR1
  • Ensembl: ENSG00000196218
  • IUPHAR-DB: 747
  • Reactome: P21817
  • LOVD: RYR1

Diseases list

  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test


Additional information

Health care resources for this gene

Specialised Social Services

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