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.
Function
Signaling induced by the protein Norrin regulates
Blood vessel 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).
Further reading
External links
