Aliases for NDP Gene
External Ids for NDP Gene
Previous HGNC Symbols for NDP Gene
Previous GeneCards Identifiers for NDP Gene
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]
GeneCards Summary for NDP Gene
NDP (NDP, Norrin Cystine Knot Growth Factor) is a Protein Coding gene. Diseases associated with NDP include Norrie Disease and Exudative Vitreoretinopathy 2, X-Linked. GO annotations related to this gene include protein homodimerization activity and growth factor activity.
UniProtKB/Swiss-Prot for NDP Gene
Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved in a pathway that regulates neural cell differentiation and proliferation. Possible role in neuroectodermal cell-cell interaction.