Norrin

Norrie disease (pseudoglioma)
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 4MY2
Identifiers
Symbols	NDP ; EVR2; FEVR; ND
External IDs	OMIM: 300658 MGI: 102570 HomoloGene: 225 GeneCards: NDP Gene
Gene ontology Molecular function • frizzled binding • cytokine activity • protein binding • growth factor activity • protein homodimerization activity Cellular component • extracellular space • cell surface • extracellular matrix Biological process • placenta development • vacuole organization • signal transduction • cell-cell signaling • nervous system development • visual perception • sensory perception of sound • cell proliferation • Wnt signaling pathway • extracellular matrix-cell signaling • positive regulation of transcription, DNA-templated • positive regulation of sequence-specific DNA binding transcription factor activity • canonical Wnt signaling pathway • retina vasculature morphogenesis in camera-type eye Sources: Amigo / QuickGO
RNA expression pattern
File:PBB GE NDP 206022 at tn.png
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4693	17986
Ensembl	ENSG00000124479	ENSMUSG00000040138
UniProt	Q00604	P48744
RefSeq (mRNA)	NM_000266	NM_010883
RefSeq (protein)	NP_000257	NP_035013
Location (UCSC)	Chr X: 43.95 – 43.97 Mb	Chr X: 16.89 – 16.91 Mb
PubMed search	[1]	[2]

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

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).

External links

• GeneReviews/NIH/NCBI/UW entry on NDP-Related Retinopathies