[HTML][HTML] Expression and characterization of inactivating and activating mutations in the human Ca2+ o-sensing receptor

M Bai, S Quinn, S Trivedi, O Kifor, SHS Pearce… - Journal of Biological …, 1996 - ASBMB
Nearly 30 mutations have been identified to date in the coding region of the extracellular
calcium-sensing receptor (CaR) that are associated with inherited human hypo-and
hypercalcemic disorders. To understand the mechanisms by which the mutations alter the
function of the receptor may help to discern the structure-function relationships in terms of
ligand-binding and G protein coupling. In the present studies, we transiently expressed eight
known CaR mutations in HEK293 cells. The effects of the mutations on extracellular calcium …