The Calcium-Sensing Receptor (CaR) and Human Disease

Shortly after the initial identification of the bovine sequence encoding the extracellular calcium-sensing receptor (CaR) (1), human genetic studies helped clarify the central and non-redundant role of the CaR in normal calcium homeostasis. Through its effects on kidney, bone, and intestine, regulated PTH secretion maintains the concentration of serum Ca2+in humans within a narrow range (between 9.0 and 10.4 mg/dl). In several now well-described disorders resulting from alterations in the gene encoding the CaR (gene name CASR), this precise regulation of serum calcium concentration is disturbed.