CASR

Extracellular calcium-sensing receptor ;
CaSR ;
Parathyroid cell calcium-sensing receptor ;
PCaR1 ;

disease:Defects in CASR are the cause of autosomal dominant hypoparathyroidism (FIH) [MIM:146200]. FIH is characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Symptoms are seizures , tetany and cramps. ,disease:Defects in CASR are the cause of familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]; in which the receptor has reduced activity. FHH is characterized by altered calcium homeostasis. Affected individuals exhibit mild or modest hypercalcemia , relative hypocalciuria , and inappropriately normal PTH levels. ,disease:Defects in CASR are the cause of neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]; in which the receptor has reduced activity. 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. ,function:Senses 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. ,PTM:N-glycosylated. ,PTM:Ubiquitinated by RNF19A; which induces proteasomal degradation. ,similarity:Belongs to the G-protein coupled receptor 3 family. ,subunit:Interacts with VCP and RNF19A. ,tissue specificity:Found in kidney , but not in brain , lung , liver , heart , skeletal muscle , or placenta. ,

skeletal system development , ossification , detection of calcium ion , cellular ion homeostasis , cellular calcium ion homeostasis , cellular metal ion homeostasis , cell surface receptor linked signal transduction , G-protein coupled receptor protein signaling pathway , intracellular signaling cascade , behavior , chemosensory behavior , detection of chemical stimulus , response to inorganic substance , response to metal ion , regulation of metal ion transport , calcium-mediated signaling , cellular homeostasis , second-messenger-mediated signaling , cellular cation homeostasis , cellular di- , tri-valent inorganic cation homeostasis , positive regulation of ATPase activity , homeostatic process , positive regulation of catalytic activity , regulation of ion transport , regulation of ATPase activity , positive regulation of molecular function , chemical homeostasis , ion homeostasis , regulation of hydrolase activity , positive regulation of hydrolase activity , response to calcium ion , detection of stimulus , regulation of calcium ion transport , metal ion homeostasis , di- , tri-valent inorganic cation homeostasis , calcium ion homeostasis , cation homeostasis , cellular chemical homeostasis ,bone development ,

Cell membrane ; Multi-pass membrane protein .