Biology:Norrin

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

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).

Further reading

• "Mutations in the candidate gene for Norrie disease". Hum. Mol. Genet. 1 (7): 461–5. 1993. doi:10.1093/hmg/1.7.461. PMID 1307245. 
• "The molecular biology of Norrie's disease". Eye 8 (5): 491–6. 1995. doi:10.1038/eye.1994.124. PMID 7835440. 
• "Wnt/Frizzled signaling in the vasculature: new angiogenic factors in sight". Physiology 21 (3): 181–8. 2007. doi:10.1152/physiol.00058.2005. PMID 16714476. 
• "Isolation of a candidate gene for Norrie disease by positional cloning". Nat. Genet. 1 (3): 199–203. 1993. doi:10.1038/ng0692-199. PMID 1303235. 
• "Isolation and characterization of a candidate gene for Norrie disease". Nat. Genet. 1 (3): 204–8. 1993. doi:10.1038/ng0692-204. PMID 1303236. 
• "Isolation of a candidate gene for Norrie disease by positional cloning". Nat. Genet. 2 (1): 84. 1993. doi:10.1038/ng0992-84a. PMID 1303256. 
• "Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins". Nat. Genet. 2 (2): 139–43. 1993. doi:10.1038/ng1092-139. PMID 1303264. 
• "Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy". Genomics 27 (2): 341–4. 1995. doi:10.1006/geno.1995.1052. PMID 7558002. 
• "Mutations in the Norrie disease gene". Hum. Mutat. 5 (4): 285–92. 1995. doi:10.1002/humu.1380050403. PMID 7627181. 
• "Missense mutations in the NDP gene in patients with a less severe course of Norrie disease". Hum. Mol. Genet. 4 (3): 489–90. 1995. doi:10.1093/hmg/4.3.489. PMID 7795608. 
• "Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene". Arch. Ophthalmol. 112 (12): 1574–9. 1995. doi:10.1001/archopht.1994.01090240080029. PMID 7993212. 
• "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. 1994. doi:10.1093/hmg/3.4.655. PMID 8069314. 
• "Identification of a nonsense mutation at codon 128 of the Norrie's disease gene in a male infant". Arch. Ophthalmol. 111 (11): 1553–7. 1993. doi:10.1001/archopht.1993.01090110119036. PMID 8240113. 
• "A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy". Nat. Genet. 5 (2): 180–3. 1994. doi:10.1038/ng1093-180. PMID 8252044. 
• "Characterization of a mutation within the NDP gene in a family with a manifesting female carrier". Hum. Mol. Genet. 2 (10): 1727–9. 1994. doi:10.1093/hmg/2.10.1727. PMID 8268931. 
• "Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure". Nat. Genet. 5 (4): 376–80. 1994. doi:10.1038/ng1293-376. PMID 8298646. 
• "A novel mutation in the Norrie disease gene predicted to disrupt the cystine knot growth factor motif". Hum. Mol. Genet. 4 (11): 2179–80. 1996. doi:10.1093/hmg/4.11.2179. PMID 8589700. 
• "X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein". Clin. Genet. 50 (3): 113–5. 1997. doi:10.1111/j.1399-0004.1996.tb02363.x. PMID 8946107. 

External links

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