Gene Symbol | NDP |
Entrez Gene ID | 4693 |
Full Name | NDP, norrin cystine knot growth factor |
Synonyms | EVR2,FEVR,ND |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Feb 2009]. |
Disorder MIM: | |
Disorder Html: | Norrie disease, 310600 (3); Exudative vitreoretinopathy 2, X-linked, 305390 (3) |