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

@article{Zhao1999AMM,
  title={A missense mutation in the seventh transmembrane domain constitutively activates the human Ca2+ receptor.},
  author={Xiujun Zhao and Omar Magid Hauache and Paul K. Goldsmith and Ruairi Collins and Allen M. Spiegel},
  journal={FEBS letters},
  year={1999},
  volume={448 1},
  pages={180-4}
}
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+ receptor lacking the majority of the N-terminal extracellular domain failed to respond to Ca2+ despite an excellent cell surface expression. The A843E mutant version of this truncated receptor showed… CONTINUE READING

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