Molecular weight (DA)
206kD
Immunogen
Synthesized peptide derived from human protein . at AA range: 330-410
Specificity
CAC1S Polyclonal Antibody detects endogenous levels of protein.
Formulation
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Dilution rate
WB 1:500-2000 ELISA 1:5000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
calcium voltage-gated channel subunit alpha1 S(CACNA1S) Homo sapiens 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],
Function
disease:Defects in CACNA1S are a cause of periodic paralysis hypokalemic (HOKPP) [MIM:170400]; also designated HYPOPP. HOKPP is an autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels.,disease:Defects in CACNA1S are the cause of malignant hyperthermia susceptibility 5 (MHS5) [MIM:601887]; an autosomal dominant disorder that is potentially lethal in susceptible individuals on exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants.,domain:Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.,domain:The loop between repeats II and III in
Gene Name
CACNA1S CACH1 CACN1 CACNL1A3
Protein name
Voltage-dependent L-type calcium channel subunit alpha-1S (Calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle) (Voltage-gated calcium channel subunit alpha Cav1.1)
Fields
>>MAPK signaling pathway;>>Calcium signaling pathway;>>cGMP-PKG signaling pathway;>>cAMP signaling pathway;>>Cardiac muscle contraction;>>Adrenergic signaling in cardiomyocytes;>>Vascular smooth muscle contraction;>>Retrograde endocannabinoid signaling;>>Cholinergic synapse;>>Serotonergic synapse;>>GABAergic synapse;>>Insulin secretion;>>GnRH signaling pathway;>>Oxytocin signaling pathway;>>Renin secretion;>>Aldosterone synthesis and secretion;>>Cortisol synthesis and secretion;>>GnRH secretion;>>Cushing syndrome;>>Growth hormone synthesis, secretion and action;>>Alzheimer disease;>>Prion disease;>>Pathways of neurodegeneration - multiple diseases;>>Chemical carcinogenesis - receptor activation;>>Hypertrophic cardiomyopathy;>>Arrhythmogenic right ventricular cardiomyopathy;>>Dilated cardiomyopathy
Human protein sequence Database
Q13698
Mouse protein sequence database
Q02789
Rat protein sequence database
Q02485
Cellular localization
Cell membrane, sarcolemma, T-tubule ; Multi-pass membrane protein .
Tissue expression
Skeletal muscle specific.
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