| GENE NAME | RYR1 |
| CHROMOSOME | 19 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000196218 |
| UNIPROT ACCESSION NUMBER | P21817 |
| GO MOLECULAR FUNCTION | ['calcium-induced calcium release activity', 'calcium channel activity', 'ATP binding', 'calcium ion binding', 'ryanodine-sensitive calcium-release channel activity', 'calcium-release channel activity', 'calmodulin binding', 'voltage-gated calcium channel activity'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04020; hsa04371; hsa04713; hsa04730; hsa04921; hsa05017; hsa05020; hsa05022; R-HSA-2672351; R-HSA-382551; R-HSA-397014; R-HSA-5576891; R-HSA-5578775; R-HSA-983712 |
| 2 combinations linked to RYR1 | OLI807; OLI1464 |
| 2 variants linked to RYR1 | RYR1:p.Thr4823Met; RYR1:c.4213C>A, p.Pro1405Thr |
| 2 diseases linked to RYR1 | Recurrent exertional rhabdomyolysis; Rare pervasive developmental disorder |