Nature Communications (Oct 2016)

Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants

  • Birgit Ploier,
  • Lydia N. Caro,
  • Takefumi Morizumi,
  • Kalpana Pandey,
  • Jillian N. Pearring,
  • Michael A. Goren,
  • Silvia C. Finnemann,
  • Johannes Graumann,
  • Vadim Y. Arshavsky,
  • Jeremy S. Dittman,
  • Oliver P. Ernst,
  • Anant K. Menon

DOI
https://doi.org/10.1038/ncomms12832
Journal volume & issue
Vol. 7, no. 1
pp. 1 – 11

Abstract

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Retinitis pigmentosa is often caused by mutations that affect the activity or transport of rhodopsin, but some mutations cause disease even though an apparently functional protein is produced. Here the authors show that three such enigmatic mutants retain scramblase activity but are unable to dimerize.