CACNA1S Antibody – Rabbit Polyclonal

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]

CACNA1S: 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. Defects in CACNA1S are the cause of periodic paralysis hypokalemic type 1 (HOKPP1); also designated HYPOPP. HOKPP1 is an autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels. Defects in CACNA1S are the cause of malignant hyperthermia susceptibility type 5 (MHS5); an autosomal dominant disorder that is potentially lethal in susceptible individuals on exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants. Defects in CACNA1S are the cause of susceptibility to thyrotoxic periodic paralysis type 1 (TTPP1). A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease. Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1S subfamily.

Protein type: Membrane protein, multi-pass; Membrane protein, integral; Channel, calcium

Chromosomal Location of Human Ortholog: 1q32

Cellular Component: I band; sarcoplasmic reticulum; cytoplasm; T-tubule; plasma membrane; voltage-gated calcium channel complex

Molecular Function: voltage-gated calcium channel activity; metal ion binding; high voltage-gated calcium channel activity

Biological Process: endoplasmic reticulum organization and biogenesis; axon guidance; striated muscle contraction; muscle contraction; calcium ion transport; skeletal muscle adaptation; skeletal muscle fiber development; extraocular skeletal muscle development; skeletal development; myoblast fusion; neuromuscular junction development

Disease: Malignant Hyperthermia, Susceptibility To, 5; Thyrotoxic Periodic Paralysis, Susceptibility To, 1; Hypokalemic Periodic Paralysis, Type 1