| GENE NAME | CACNA1S |
| CHROMOSOME | 1 |
| ENSEMBL ID | ENSG00000081248 |
| ENTREZ ID | 779 |
| UNIPROT ACCESSION NUMBER | Q13698 |
| GO MOLECULAR FUNCTION | metal ion binding; protein binding; voltage-gated ion channel activity; voltage-gated calcium channel activity; high voltage-gated calcium channel activity; ion channel activity; calcium channel activity; calmodulin binding |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04261; hsa04911; hsa04927; hsa04935; hsa04270; hsa04912; hsa04929; hsa04260; hsa05412; hsa04727; hsa05410; hsa05010; hsa05020; hsa04921; hsa04726; hsa05414; hsa04010; hsa04020; R-HSA-419037; hsa04723; hsa04024; hsa04925; hsa05022; hsa04924; hsa04022; hsa04725; R-HSA-375165; R-HSA-9675108; R-HSA-422475; hsa04934; R-HSA-1266738 |
| 2 combinations linked to CACNA1S | OLI570; OLI809 |
| 2 variants linked to CACNA1S | CACNA1S:c.1046C>G, p.Thr349Ile; CACNA1S:p.Arg498Leu |
| 2 diseases linked to CACNA1S | Recurrent exertional rhabdomyolysis; Limb-girdle muscular dystrophy |