Literature associating CACNA1S and congenital structural myopathy
CACNA1S [ENSP00000355192]
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 sarcplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group.
Synonyms: CACNA1S, CACNA1Sp, hCACNA1S, B1ALM3, Q13698 ...