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
- CCHL1A3 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 Arrhythmogenic right ventricular cardiomyopathy (ARVC) and GABAergic synapse. 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
Pore-forming, alpha-1S subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle via their interaction with RYR1, which triggers Ca(2+) release from the sarcplasmic reticulum and ultimately results in muscle contraction. Long-lasting (L-type) calcium channels belong to the high-voltage activated (HVA) group.
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.