| Entrez Gene ID |
779 |
| Official Gene Symbol |
CACNA1S (GeneCards) |
| Full name |
calcium voltage-gated channel subunit alpha1 S |
| Location |
1q32.1 |
| Other ids |
Vega : OTTHUMG00000035784
MIM : 114208
HGNC : HGNC:1397
Ensembl : ENSG00000081248
|
| Other names |
MHS5,
HOKPP,
TTPP1,
Cav1.1,
HOKPP1,
hypoPP,
CCHL1A3,
CACNL1A3
|
| 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] |