Entrez gene ID | | 4693 |
Official gene symbol | | NDP |
Full name | | Norrie disease (pseudoglioma) |
Aliases | | ,EVR2,FEVR,ND, |
Gene summary | | 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] |
Location | | Chromosome: X Locus: Xp11.4 |
Gene position | | 43832921 - 43808022 Map Viewer |
Gene orientation | | minus |
Gene size | | 24900 bp |
Gene sequence |
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OMIM ID | | 300658 |
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