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
Orthologs
SpeciesHumanMouse
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 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

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

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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000124479 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040138 - Ensembl, 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. 1 2 3 "Entrez Gene: NDP Norrie disease (pseudoglioma)".

Further reading

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.