Species Human Entrez 4693 | Human Mouse Ensembl ENSG00000124479 | |
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Aliases NDP, EVR2, FEVR, ND, Norrie disease (pseudoglioma), norrin cystine knot growth factor External IDs MGI: 102570 HomoloGene: 225 GeneCards: 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.
Contents
Function
Signaling induced by the protein Norrin regulates vascular development of vertebrate retina and controls important blood vessels in the ear. Norrin binds with high affinity to Frizzled 4, and Frizzled 4 knockout mice exhibit abnormal vascular development of the retina.
Clinical significance
NDP is the genetic locus identified as harboring mutations that result in Norrie disease. Norrie disease is a rare genetic disorder characterized by bilateral congenital blindness that is caused by a vascularized mass behind each lens due to a maldeveloped retina (pseudoglioma).