18 amino acids near the amino terminus of human Norrin.
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]
cytokine activity; frizzled binding; growth factor activity; protein binding; protein homodimerization activity
NDP; Norrie disease (pseudoglioma); ND; EVR2; FEVR; norrin; norrie disease protein; X-linked exudative vitreoretinopathy 2 protein