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CACNA1S - calcium voltage-gated channel subunit alpha1 S
- Synonym(s) : Cav1.1, hypoPP
- Previous symbols and names : CACNL1A3, HOKPP, MHS5, calcium channel, voltage-dependent, L type, alpha 1S subunit
- Type : gene with protein product
- Chromosomal location : 1q32.1
- OMIM: 114208
- HGNC: 1397
- UniProtKB: Q13698
- Genatlas: CACNA1S
- Ensembl: ENSG00000081248
- IUPHAR-DB: 528
- Reactome: Q13698
- LOVD: CACNA1S
Diseases list
- Disease-causing germline mutation(s) in Hypokalemic periodic paralysis
- Disease-causing germline mutation(s) in Periodic paralysis with transient compartment-like syndrome
- Major susceptibility factor in Malignant hyperthermia of anesthesia
- Candidate gene tested in Thyrotoxic periodic paralysis
: AssessedAdditional information
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