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Also known as: MHS5; DHPRM; HOKPP; TTPP1; CMYP18; Cav1.1; HOKPP1; hypoPP; CCHL1A3; CACNL1A3
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.