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Norrin

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(Redirected from Pseudoglioma)
NDP
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000266

NM_010883

RefSeq (protein)

NP_000257

NP_035013

Location (UCSC)Chr X: 43.95 – 43.97 MbChr X: 16.75 – 16.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.

Function

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Signaling induced by the protein Norrin regulates vascular development of vertebrate retina and controls important blood vessels in the ear.[5] Norrin binds with high affinity to Frizzled 4, and Frizzled 4 knockout mice exhibit abnormal vascular development of the retina.

Clinical significance

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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]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000124479Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040138Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "Entrez Gene: NDP Norrie disease (pseudoglioma)".

Further reading

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