This gene encodes a secreted protein with a cystein-knot motif that activates the Wnt/beta-catenin pathway. The protein forms disulfide-linked oligomers in the extracellular matrix. Mutations in this gene result in Norrie disease and X-linked exudative vitreoretinopathy. [provided by RefSeq, Feb 2009].
Latest Publications for our Norrie Disease (Pseudoglioma) 抗体
Halfter, Moes, Asgeirsson, Halfter, Oertle, Melo Herraiz, Plodinec, Jenoe, Henrich: "Diabetes-related changes in the protein composition and the biomechanical properties of human retinal vascular basement membranes." in: PLoS ONE, Vol. 12, Issue 12, pp. e0189857, (2018) (PubMed).
Hondius, Eigenhuis, Morrema, van der Schors, van Nierop, Bugiani, Li, Hoozemans, Smit, Rozemuller: "Proteomics analysis identifies new markers associated with capillary cerebral amyloid angiopathy in Alzheimer's disease." in: Acta neuropathologica communications, Vol. 6, Issue 1, pp. 46, (2018) (PubMed).