Abstract：
:We demonstrate that mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT), two inherited conditions characterized by altered calcium homeostasis. The Ca(2+)-sensing receptor belongs to the superfamily of seven membrane-spanning G protein-coupled receptors. Three nonconservative missense mutations are reported: two occur in the extracellular N-terminal domain of the receptor; the third occurs in the final intracellular loop. One mutated receptor identified in FHH individuals was expressed in X. laevis oocytes. The expressed wild-type receptor elicited large inward currents in response to perfused polyvalent cations; a markedly attenuated response was observed with the mutated protein. We conclude that the mammalian Ca(2+)-sensing receptor "sets" the extracellular Ca2+ level and is defective in individuals with FHH and NSHPT.
journal_name
Celljournal_title
Cellauthors
Pollak MR,Brown EM,Chou YH,Hebert SC,Marx SJ,Steinmann B,Levi T,Seidman CE,Seidman JGdoi
10.1016/0092-8674(93)90617-ysubject
Has Abstractpub_date
1993-12-31 00:00:00pages
1297-303issue
7eissn
0092-8674issn
1097-4172pii
0092-8674(93)90617-Yjournal_volume
75pub_type
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