DISEASES

Disease-gene associations mined from literature

Literature associating CACNA1S and arrhythmogenic right ventricular cardiomyopathy

CACNA1S [ENSP00000355192]

Calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle; 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,  CACNA1S-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM