rhodopsin
Última actualización 25 Abr 2023
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El RHO gene provides instructions for making a protein called rhodopsin. This protein is necessary for normal vision, particularly in low-light conditions. Rhodopsin is found in specialized light receptor cells called rods. As part of the light-sensitive tissue at the back of the eye (the retina), rods provide vision in low light. Other light receptor cells in the retina, called cones, are responsible for vision in bright light.
Normal function
El RHO gene provides instructions for making a protein called rhodopsin. This protein is necessary for normal vision, particularly in low-light conditions. Rhodopsin is found in specialized light receptor cells called rods. As part of the light-sensitive tissue at the back of the eye (the retina), rods provide vision in low light. Other light receptor cells in the retina, called cones, are responsible for vision in bright light.
The rhodopsin protein is attached (bound) to a molecule called 11-cis retinal, which is a form of vitamin A. When light hits this molecule, it activates rhodopsin and sets off a series of chemical reactions that create electrical signals. These signals are transmitted to the brain, where they are interpreted as vision.
Conditions referring to this gene or chromosome
Otros nombres
CSNBAD1
MGC138309
MGC138311
OPN2
OPSD_HUMAN
opsin 2, rod pigment
opsin-2
RP4
Lecturas adicionales y referencias
- rhodopsin; MedlinePlus, National Library of Medicine.
- Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Yandell DW, Sandberg MA, Berson EL. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature. 1990 Jan 25;343(6256):364-6. doi: 10.1038/343364a0.
- Fahim AT, Daiger SP, Weleber RG. Nonsyndromic Retinitis Pigmentosa Overview. 2000 Aug 4 [updated 2023 Apr 6]. 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/NBK1417/
- Fain GL. The mechanism of genetically inherited night blindness. Proc Natl Acad Sci U S A. 2024 May 28;121(22):e2408254121. doi: 10.1073/pnas.2408254121. Epub 2024 May 20. No abstract available.
- Foote KG, Wong JJ, Boehm AE, Bensinger E, Porco TC, Roorda A, Duncan JL. Comparing Cone Structure and Function in RHO- and RPGR-Associated Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2020 Apr 9;61(4):42. doi: 10.1167/iovs.61.4.42.
- McAlear SD, Kraft TW, Gross AK. 1 rhodopsin mutations in congenital night blindness. Adv Exp Med Biol. 2010;664:263-72. doi: 10.1007/978-1-4419-1399-9_30.
- Mendes HF, van der Spuy J, Chapple JP, Cheetham ME. Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy. Trends Mol Med. 2005 Apr;11(4):177-85. doi: 10.1016/j.molmed.2005.02.007.
- Morris MB, Dastmalchi S, Church WB. Rhodopsin: structure, signal transduction and oligomerisation. Int J Biochem Cell Biol. 2009 Apr;41(4):721-4. doi: 10.1016/j.biocel.2008.04.025. Epub 2008 Aug 3.
- Palczewski K, Kumasaka T, Hori T, Behnke CA, Motoshima H, Fox BA, Le Trong I, Teller DC, Okada T, Stenkamp RE, Yamamoto M, Miyano M. Crystal structure of rhodopsin: A G protein-coupled receptor. Science. 2000 Aug 4;289(5480):739-45. doi: 10.1126/science.289.5480.739.
- Palczewski K. G protein-coupled receptor rhodopsin. Annu Rev Biochem. 2006;75:743-67. doi: 10.1146/annurev.biochem.75.103004.142743.
- Ripps H. Cell death in retinitis pigmentosa: gap junctions and the 'bystander' effect. Exp Eye Res. 2002 Mar;74(3):327-36. doi: 10.1006/exer.2002.1155.
- Saliba RS, Munro PM, Luthert PJ, Cheetham ME. The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation. J Cell Sci. 2002 Jul 15;115(Pt 14):2907-18. doi: 10.1242/jcs.115.14.2907.
- Smith SO. Structure and activation of the visual pigment rhodopsin. Annu Rev Biophys. 2010;39:309-28. doi: 10.1146/annurev-biophys-101209-104901.
- Souied E, Soubrane G, Benlian P, Coscas GJ, Gerber S, Munnich A, Kaplan J. Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. Am J Ophthalmol. 1996 Jan;121(1):19-25. doi: 10.1016/s0002-9394(14)70530-6.
- Zeitz C, Gross AK, Leifert D, Kloeckener-Gruissem B, McAlear SD, Lemke J, Neidhardt J, Berger W. Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. Invest Ophthalmol Vis Sci. 2008 Sep;49(9):4105-14. doi: 10.1167/iovs.08-1717. Epub 2008 May 16.
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