Entrez gene ID | | 779 |
Official gene symbol | | CACNA1S |
Full name | | calcium channel, voltage-dependent, L type, alpha 1S subunit |
Aliases | | ,CACNL1A3,CCHL1A3,Cav1.1,HOKPP,MHS5,TTPP1,hypoPP, |
Gene 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] |
Location | | Chromosome: 1 Locus: 1q32 |
Gene position | | 201081694 - 201008640 Map Viewer |
Gene orientation | | minus |
Gene size | | 73055 bp |
Gene sequence |
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OMIM ID | | 114208 |
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