PharmGKB summary: very important pharmacogene information for CACNA1S.

The gene encodes the α1s subunit of the dihydropyridine receptor (DHPR), a voltage-gated calcium channel and voltage sensor for Ca release in skeletal muscle. Variants in the gene have been linked to the pharmacogenetic disorder known as malignant hyperthermia susceptibility (MHS) and hypokalemic periodic paralysis (hypoPP). Two variants in are verified by the European Malignant Hyperthermia Group (EMHG) to be associated with MHS [1].