title: Clinical disorders of extracellular calcium-sensing and the molecular biology of the calcium-sensing receptor.
abstract: The calcium-sensing receptor is a G protein-coupled receptor that has a key role in extracellular calcium homeostasis, regulating the secretion of parathyroid hormone and the reabsorption of urinary calcium appropriate to the prevailing calcaemic environment. Molecular abnormalities of the calcium-sensing receptor are responsible for three clinical disorders, familial benign hypocalciuric hypercalcaemia, neonatal severe hyperparathyroidism and autosomal dominant hypocalcaemia with hypercalciuria. In the future, therapeutic compounds that modulate calcium-sensing receptor function may have a role in the medical management of hyperparathyroidism (calcimimetic drugs) and osteoporosis (calcilytic drugs).
authors.affiliation: School of Clinical Medical Sciences, Institute of Human Genetics, University of Newcastle upon Tyne, United Kingdom. spearce@hgmp.mrc.ac.uk
authors.forename: Simon H S
authors.initials: SH
authors.lastname: Pearce
mesh_terms: D002118:Calcium / Q000378:metabolism; D006706:Homeostasis; D006801:Humans; D006934:Hypercalcemia / Q000235:genetics / Q000378:metabolism; D006961:Hyperparathyroidism / Q000235:genetics / Q000378:metabolism; D006996:Hypocalcemia / Q000235:genetics / Q000378:metabolism; D007231:Infant, Newborn; D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface / Q000235:genetics / Q000502:physiology
chemical_list: D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface; D002118:Calcium