Aliases for CACNA1S Gene
- Calcium Voltage-Gated Channel Subunit Alpha1 S 2 3 5
- Calcium Channel, Voltage-Dependent, L Type, Alpha 1S Subunit 2 3
- Voltage-Gated Calcium Channel Subunit Alpha Cav1.1 3 4
- CACNL1A3 3 4
- Calcium Channel, L Type, Alpha 1 Polypeptide, Isoform 3 (Skeletal Muscle, Hypokalemic Periodic Paralysis) 3
- Calcium Channel, L Type, Alpha-1 Polypeptide, Isoform 3, Skeletal Muscle 4
- Dihydropyridine-Sensitive L-Type Calcium Channel Alpha-1 Subunit 3
- Voltage-Dependent L-Type Calcium Channel Subunit Alpha-1S 3
- Dihydropyridine Receptor Alpha 1 Subunit 3
- Dihydropyridine Receptor 3
External Ids for CACNA1S Gene
Previous HGNC Symbols for CACNA1S Gene
Previous GeneCards Identifiers for CACNA1S Gene
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]
GeneCards Summary for CACNA1S Gene
CACNA1S (Calcium Voltage-Gated Channel Subunit Alpha1 S) is a Protein Coding gene. Diseases associated with CACNA1S include Hypokalemic Periodic Paralysis, Type 1 and Malignant Hyperthermia Susceptibility 5. Among its related pathways are Circadian entrainment and NFAT and Cardiac Hypertrophy. GO annotations related to this gene include ion channel activity and high voltage-gated calcium channel activity. An important paralog of this gene is CACNA1C.
UniProtKB/Swiss-Prot for CACNA1S Gene
Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1S gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the high-voltage activated (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle.
Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium influx in response to depolarization. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression.