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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
- GenCC: RYR1
- Ensembl: ENSG00000196218
- IUPHAR-DB: 747
- Reactome: P21817
- LOVD: RYR1
Diseases list
- Disease-causing germline mutation(s) in Autosomal recessive centronuclear myopathy
ORPHA:169186 
- Disease-causing germline mutation(s) in Benign Samaritan congenital myopathy
ORPHA:324581 - Disease-causing germline mutation(s) in Central core disease
ORPHA:597 - Disease-causing germline mutation(s) in Congenital multicore myopathy with external ophthalmoplegia
ORPHA:98905 - Disease-causing germline mutation(s) in Congenital myopathy with myasthenic-like onset
ORPHA:424107 - Disease-causing germline mutation(s) in King-Denborough syndrome
ORPHA:99741 - Disease-causing germline mutation(s) in Lethal multiple pterygium syndrome
ORPHA:33108 - Disease-causing germline mutation(s) in Malignant hyperthermia of anesthesia
ORPHA:423 - Disease-causing germline mutation(s) in Moderate multiminicore disease with hand involvement
ORPHA:178145 - Major susceptibility factor in Exercise-induced malignant hyperthermia
ORPHA:466650 - Candidate gene tested in Autosomal dominant centronuclear myopathy
ORPHA:169189
: AssessedAdditional information
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