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.
Gene data
NDP- Name
- norrin cystine knot growth factor NDP
- Type
- protein-coding
- Chromosome
- X
- Position
- 43,948,772–43,973,395 (−)
- Aliases
- EVR2, FEVR, ND
- Ensembl
- ENSG00000124479
- RefSeq RNA
- NM_000266.4
- RefSeq protein
- NP_000257.1
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].
Gene Ontology
Biological process
Molecular function
Cellular component
via MyGene.info
Gene · Ensembl
norrin cystine knot growth factor NDP
- Symbol
- NDP
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- Chr X:43,948,772-43,973,603
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 225
- exact match
- identifiers.org/ncbigene/4693
- genomic end
- 43973395
- genomic start
- 43808022
- cytogenetic location
- Xp11.3
via Wikidata · CC0
~1 min read
Article
5 sectionsContents
- Function
- Clinical significance
- References
- Further reading
- External links
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 ==