Key features and details
- Expression system: Wheat germ
- Suitable for: ELISA, SDS-PAGE, WB
Product nameRecombinant Human CaSR protein
Expression systemWheat germ
Protein lengthProtein fragment
SequenceGPDQRAQKKGDIILGGLFPIHFGVAAKDQDLKSRPESVECIRYNFRGFRW LQAMIFAIEEINSSPALLPNLTLGYRIFDTCNTVSKALEATLSFVAQNKI DSLNLDEFCN
Predicted molecular weight38 kDa including tags
Amino acids21 to 130
Our Abpromise guarantee covers the use of ab114274 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
This product was previously labelled as Calcium Sensing Receptor.
Concentration information loading...
Preparation and Storage
Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
Constituents: 0.3% Glutathione, 0.79% Tris HCl
- Ca sensing receptor
- Ca2+ sensing receptor
- Ca2+ sensing receptor 1
FunctionSenses changes in the extracellular concentration of calcium ions. The activity of this receptor is mediated by a G-protein that activates a phosphatidylinositol-calcium second messenger system.
Tissue specificityExpressed in the temporal lobe, frontal lobe, parietal lobe, hippocampus, and cerebellum. Also found in kidney, lung, liver, heart, skeletal muscle, placenta.
Involvement in diseaseDefects in CASR are the cause of familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]. FHH is characterized by altered calcium homeostasis. Affected individuals exhibit mild or modest hypercalcemia, relative hypocalciuria, and inappropriately normal PTH levels.
Defects in CASR are the cause of neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]. NSHPT is a rare autosomal recessive life-threatening disorder characterized by very high serum calcium concentrations, skeletal demineralization, and parathyroid hyperplasia. In some instances NSHPT has been demonstrated to be the homozygous form of FHH.
Defects in CASR are a cause of familial isolated hypoparathyroidism (FIH) [MIM:146200]; also called autosomal dominant hypoparathyroidism or autosomal dominant hypocalcemia. FIH is characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Symptoms are seizures, tetany and cramps. An autosomal recessive form of FIH also exists.
Defects in CASR are the cause of idiopathic generalized epilepsy type 8 (IGE8) [MIM:612899]; also known as EIG8. A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Seizure types are variable, but include myoclonic seizures, absence seizures, febrile seizures, complex partial seizures, and generalized tonic-clonic seizures.
Note=Homozygous defects in CASR can be a cause of primary hyperparathyroidism in adulthood. Patients suffer from osteoporosis and renal calculi, have marked hypercalcemia and increased serum PTH concentrations.
Sequence similaritiesBelongs to the G-protein coupled receptor 3 family.
Ubiquitinated by RNF19A; which induces proteasomal degradation.
Cellular localizationCell membrane.
- Information by UniProt
To our knowledge, customised protocols are not required for this product. Please try the standard protocols listed below and let us know how you get on.
ab114274 has not yet been referenced specifically in any publications.