Article
NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein.
Investigative ophthalmology & visual science - 1 Oct 2003
Zeitz Christina, Scherthan Harry, Freier Susanne, Feil Silke, Suckow Vanessa, Schweiger Susann, Berger Wolfgang
Abstract excerpt
PURPOSE: The complete type of X-linked congenital stationary night blindness (CSNB1) in human and mouse is caused by mutations in the NYX gene. The human NYX protein has been predicted to contain an N-terminal endoplasmic reticulum (ER) signaling sequence and a C-terminal glycosylphosphatidylinositol (GPI) anchor. In the current study, these computer predictions were verified experimentally by expression of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
