calcium voltage-gated channel subunit alpha1 S
Alias
CACNL1A3 | CCHL1A3 | Cav1.1 | HOKPP | HOKPP1 | MHS5 | TTPP1 | hypoPP
This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008].