CACNA1S
CACNA1S encodes the alpha-1S subunit of the dihydropyridine receptor, the voltage-sensing L-type calcium channel in the skeletal-muscle transverse-tubule membrane that physically couples to the ryanodine receptor (RYR1) to trigger calcium release for excitation-contraction coupling. Pathogenic CACNA1S variants disrupt this calcium regulation and are a well-established, if less common than RYR1, cause of susceptibility to malignant hyperthermia triggered by volatile anesthetics and succinylcholine.
Traits CACNA1S shapes
Reference databases
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