Norrin

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.

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
Gene location (Human)
Chr.X chromosome (human)[1]
BandXp11.3Start43,948,776 bp[1]
End43,973,395 bp[1]
RNA expression pattern
More reference expression data
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: 16.89 – 16.91 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Further reading
  • Berger W, van de Pol D, Warburg M, et al. (1993). "Mutations in the candidate gene for Norrie disease". Hum. Mol. Genet. 1 (7): 461–5. doi:10.1093/hmg/1.7.461. PMID 1307245.
  • Black G, Redmond RM (1995). "The molecular biology of Norrie's disease". Eye (London, England). 8 (5): 491–6. doi:10.1038/eye.1994.124. PMID 7835440.
  • Masckauchán TN, Kitajewski J (2007). "Wnt/Frizzled signaling in the vasculature: new angiogenic factors in sight". Physiology. 21 (3): 181–8. doi:10.1152/physiol.00058.2005. PMID 16714476.
  • Berger W, Meindl A, van de Pol TJ, et al. (1993). "Isolation of a candidate gene for Norrie disease by positional cloning". Nat. Genet. 1 (3): 199–203. doi:10.1038/ng0692-199. PMID 1303235.
  • Chen ZY, Hendriks RW, Jobling MA, et al. (1993). "Isolation and characterization of a candidate gene for Norrie disease". Nat. Genet. 1 (3): 204–8. doi:10.1038/ng0692-204. PMID 1303236.
  • Berger W, Meindl A, van de Pol TJ, et al. (1993). "Isolation of a candidate gene for Norrie disease by positional cloning". Nat. Genet. 2 (1): 84. doi:10.1038/ng0992-84a. PMID 1303256.
  • Meindl A, Berger W, Meitinger T, et al. (1993). "Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins". Nat. Genet. 2 (2): 139–43. doi:10.1038/ng1092-139. PMID 1303264.
  • Shastry BS, Hejtmancik JF, Plager DA, et al. (1995). "Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy". Genomics. 27 (2): 341–4. doi:10.1006/geno.1995.1052. PMID 7558002.
  • Schuback DE, Chen ZY, Craig IW, et al. (1995). "Mutations in the Norrie disease gene". Hum. Mutat. 5 (4): 285–92. doi:10.1002/humu.1380050403. PMID 7627181.
  • Meindl A, Lorenz B, Achatz H, et al. (1995). "Missense mutations in the NDP gene in patients with a less severe course of Norrie disease". Hum. Mol. Genet. 4 (3): 489–90. doi:10.1093/hmg/4.3.489. PMID 7795608.
  • Joos KM, Kimura AE, Vandenburgh K, et al. (1995). "Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene". Arch. Ophthalmol. 112 (12): 1574–9. doi:10.1001/archopht.1994.01090240080029. PMID 7993212.
  • Fuchs S, Xu SY, Caballero M, et al. (1994). "A missense point mutation (Leu13Arg) of the Norrie disease gene in a large Cuban kindred with Norrie disease". Hum. Mol. Genet. 3 (4): 655–6. doi:10.1093/hmg/3.4.655. PMID 8069314.
  • Wong F, Goldberg MF, Hao Y (1993). "Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant". Arch. Ophthalmol. 111 (11): 1553–7. doi:10.1001/archopht.1993.01090110119036. PMID 8240113.
  • Chen ZY, Battinelli EM, Fielder A, et al. (1994). "A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy". Nat. Genet. 5 (2): 180–3. doi:10.1038/ng1093-180. PMID 8252044.
  • Chen ZY, Battinelli EM, Woodruff G, et al. (1994). "Characterization of a mutation within the NDP gene in a family with a manifesting female carrier". Hum. Mol. Genet. 2 (10): 1727–9. doi:10.1093/hmg/2.10.1727. PMID 8268931.
  • Meitinger T, Meindl A, Bork P, et al. (1994). "Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure". Nat. Genet. 5 (4): 376–80. doi:10.1038/ng1293-376. PMID 8298646.
  • Strasberg P, Liede HA, Stein T, et al. (1996). "A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif". Hum. Mol. Genet. 4 (11): 2179–80. doi:10.1093/hmg/4.11.2179. PMID 8589700.
  • Johnson K, Mintz-Hittner HA, Conley YP, Ferrell RE (1997). "X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein". Clin. Genet. 50 (3): 113–5. doi:10.1111/j.1399-0004.1996.tb02363.x. PMID 8946107.


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