calcium voltage-gated channel subunit alpha1 S
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Diagnostic Grade (Green)
Acute rhabdomyolysis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownCongenital myopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalMalignant hyperthermia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownRhabdomyolysis and metabolic muscle disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSkeletal Muscle Channelopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalSkeletal muscle channelopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown+1 more panels — install the extension to see the full list inline on any page.
hypokalemic periodic paralysis, type 1
congenital myopathy 18
malignant hyperthermia of anesthesia
hypertensive disorder
epilepsy
Hypertension
coronary artery disorder
Prinzmetal angina
neuropathic pain
fibromyalgia
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Voltage-dependent L-type calcium channel subunit alpha-1S
Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle via their interaction with RYR1, which triggers Ca(2+) release from the sarcoplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group
Curated MONDO disease pages that list CACNA1S among their top associated genes.
CACNA1S · Q13698
Mean pLDDT
71.8/ 100
Confident
1,873 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
