Gene Symbol | CACNA1S |
Entrez Gene ID | 779 |
Full Name | calcium voltage-gated channel subunit alpha1 S |
Synonyms | CACNL1A3,CCHL1A3,Cav1.1,HOKPP,HOKPP1,MHS5,TTPP1,hypoPP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Hypokalemic periodic paralysis, type 1, 170400 (3); {Malignant hyperthermia susceptibility 5}, 601887 (3); {Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3) |