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. ,
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