Also known as EVR2, FEVR, ND, Norrie disease (pseudoglioma), NDP, norrin cystine knot growth factor, norrin cystine knot growth factor NDP
Norrin, also known as Norrie disease protein or X-linked exudative vitreoretinopathy 2 protein (EVR2) is a protein that in humans is encoded by the NDP gene. Mutations in the NDP gene are associated with the Norrie disease.
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].
Biological process
~1 min read
Norrin, also known as Norrie disease protein or X-linked exudative vitreoretinopathy 2 protein (EVR2) is a protein that in humans is encoded by the NDP gene. Mutations in the NDP gene are associated with the Norrie disease.
== Function ==
Cellular component
via MyGene.info
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).