A missense mutation in the seventh transmembrane domain constitutively activates the human Ca2+ receptor

• Published in: FEBS letters Vol. 448; no. 1; pp. 180 - 184
• Main Authors: Zhao, Xin-mei, Hauache, Omar, Goldsmith, Paul K., Collins, Regina, Spiegel, Allen M.
• Format: Journal Article
• Language: English
• Published: England 01.04.1999
• Subjects: ADH, autosomal dominant hypocalcemia; Binding Sites; Calcium-Binding Proteins - genetics; Calcium-Binding Proteins - metabolism; Calcium-sensing receptor; CaR, Ca2+ receptor; Cell Line, Transformed; Cell Membrane - metabolism; Constitutive activation; DMEM, Dulbecco's modified Eagle's medium; ECD, extracellular domain; Enzyme-Linked Immunosorbent Assay; FBS, fetal bovine serum; G protein-coupled receptor; GPCR, G protein-coupled receptor; hCaR, human Ca2+ receptor; Humans; Hydrolysis; mGluR, metabotropic glutamate receptor; Mutation, Missense; PCR, polymerase chain reaction; Phosphatidylinositols - metabolism; PI, phosphoinositide; Signal Transduction; TM, transmembrane domain

A missense mutation, A843E, in the seventh transmembrane domain of the human Ca2+ receptor, identified in a subject with autosomal dominant hypocalcemia, was found to cause a constitutive activation while at the same time lowering the maximal response of the receptor to Ca2+. A truncated human Ca2+...