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NDP
Norrie disease (pseudoglioma)
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.
| Gene Name: | Norrie disease (pseudoglioma) |
| Synonyms: | NDP, FEVR, ND, Norrie disease (pseudoglioma), Norrie disease protein, Norrin, EVR2 |
| Target Sequences: | NM_000266 NP_000257.1 Q00604 |
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