Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein.

@article{OConnor2005SpeciesSM,
  title={Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein.},
  author={Elizabeth O'Connor and Birgit Eisenhaber and Jane A Dalley and Tao Wang and Caroline Missen and Neil J Bulleid and Paul N. Bishop and Dorothy Trump},
  journal={Human molecular genetics},
  year={2005},
  volume={14 13},
  pages={1877-87}
}
Mutations in the gene NYX, which encodes nyctalopin, lead to the retinal disorder congenital stationary night blindness which is characterized by defective night vision (nyctalopia) from birth. Nyctalopin is of unknown function but is predicted to be a secreted glycoprotein of the extracellular small leucine-rich repeat (SLRP) proteoglycan and protein family attached to the cell membrane in humans via a glycosylphosphatidylinositol (GPI) anchor but in mouse via a transmembrane domain. We… CONTINUE READING