norrin cystine knot growth factor NDP
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The NDP gene provides instructions for making a protein called norrin. Norrin participates in chemical signaling pathways that affect the way cells and tissues develop. Studies suggest that norrin may play a role in Wnt signaling, which is important for cell division (proliferation), attachment of cells to one another (adhesion), cell movement (migration), and many other cellular activities.
Normal function
The NDP gene provides instructions for making a protein called norrin. Norrin participates in chemical signaling pathways that affect the way cells and tissues develop. Studies suggest that norrin may play a role in Wnt signaling, which is important for cell division (proliferation), attachment of cells to one another (adhesion), cell movement (migration), and many other cellular activities.
Norrin is one of many proteins, or ligands, that can attach (bind) to other proteins called frizzled receptors. These receptors are embedded in the outer membranes of cells. Norrin binds with the receptor frizzled-4 (produced from the FZD4 gene). The two proteins fit together like a key in a lock. When a ligand binds to a frizzled receptor, it initiates a multi-step process that regulates the activity of certain genes.
The norrin protein and frizzled-4 participate in developmental processes that are believed to be crucial for normal development of the eye and other body systems. In particular, norrin seems to play critical roles in the specialization of cells in the retina (the light-sensitive tissue that lines the back of the eye) and the formation of blood vessels in the retina and in the inner ear.
Conditions referring to this gene or chromosome
Altri nomi
ND
NDP_HUMAN
Norrie disease (pseudoglioma)
norrin
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Ulteriori letture e riferimenti
- norrin cystine knot growth factor NDP; MedlinePlus, National Library of Medicine.
- Chen ZY, Hendriks RW, Jobling MA, Powell JF, Breakefield XO, Sims KB, Craig IW. Isolation and characterization of a candidate gene for Norrie disease. Nat Genet. 1992 Jun;1(3):204-8. doi: 10.1038/ng0692-204.
- Clevers H. Wnt signaling: Ig-norrin the dogma. Curr Biol. 2004 Jun 8;14(11):R436-7. doi: 10.1016/j.cub.2004.05.039.
- Dickinson JL, Sale MM, Passmore A, FitzGerald LM, Wheatley CM, Burdon KP, Craig JE, Tengtrisorn S, Carden SM, Maclean H, Mackey DA. Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity. Clin Exp Ophthalmol. 2006 Sep-Oct;34(7):682-8. doi: 10.1111/j.1442-9071.2006.01314.x.
- Haider MZ, Devarajan LV, Al-Essa M, Kumar H. A C597-->A polymorphism in the Norrie disease gene is associated with advanced retinopathy of prematurity in premature Kuwaiti infants. J Biomed Sci. 2002 Jul-Aug;9(4):365-70. doi: 10.1007/BF02256593.
- Hiraoka M, Berinstein DM, Trese MT, Shastry BS. Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity. J Hum Genet. 2001;46(4):178-81. doi: 10.1007/s100380170085.
- Kondo H, Qin M, Kusaka S, Tahira T, Hasebe H, Hayashi H, Uchio E, Hayashi K. Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1276-82. doi: 10.1167/iovs.06-1042.
- Royer G, Hanein S, Raclin V, Gigarel N, Rozet JM, Munnich A, Steffann J, Dufier JL, Kaplan J, Bonnefont JP. NDP gene mutations in 14 French families with Norrie disease. Hum Mutat. 2003 Dec;22(6):499. doi: 10.1002/humu.9204.
- Scruggs BA, Reding MQ, Schimmenti LA. NDP-Related Retinopathies. 1999 Jul 30 [updated 2023 Mar 23]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1331/
- Shastry BS. Genetic susceptibility to advanced retinopathy of prematurity (ROP). J Biomed Sci. 2010 Aug 25;17(1):69. doi: 10.1186/1423-0127-17-69.
- Xu Q, Wang Y, Dabdoub A, Smallwood PM, Williams J, Woods C, Kelley MW, Jiang L, Tasman W, Zhang K, Nathans J. Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell. 2004 Mar 19;116(6):883-95. doi: 10.1016/s0092-8674(04)00216-8.
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