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Gene Symbol CACNA1S
Synonyms CACNL1A3 | Cav1.1 | CCHL1A3 | HOKPP | HOKPP1 | hypoPP | MHS5 | TTPP1
Gene Description CACNA1S, calcium voltage-gated channel subunit alpha1 S, encodes the alpha-1 subunit of an L-type voltage-dependent skeletal muscle calcium channel (PMID: 11260227). Mutations in CACNA1S have been identified in large-scale sequencing studies (PMID: 31660073, PMID: 31508376).
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