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RYR1

Gene

ryanodine receptor 1

HGNCHGNC:10483EnsemblENSG00000196218NCBI Gene6261
Locus: gene with protein productLocation: 19q13.2

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asMHS · MHS1 · CCO · RYR · PPP1R137
View full nomenclature history (8)
Previous symbolsMHS, MHS1, CCO
Alias symbolsRYR, PPP1R137
Previous namescentral core disease of muscle, ryanodine receptor 1 (skeletal)
Alias namesprotein phosphatase 1, regulatory subunit 137

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Malignant hyperthermia of anesthesia

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Ryanodine receptorsProtein phosphatase 1 regulatory subunits

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.