Norrin
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
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.[5] Mutations in the NDP gene are associated with the Norrie disease.
AliasesNDP, EVR2, FEVR, ND, Norrie disease (pseudoglioma), norrin cystine knot growth factor, norrin cystine knot growth factor NDP
External IDsOMIM: 300658; MGI: 102570; HomoloGene: 225; GeneCards: NDP; OMA:NDP - orthologs
Function
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).[5]