retinol dehydrogenase 5
Last updated 18 Aug 2020
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The RDH5 gene provides instructions for making an enzyme called 11-cis retinol dehydrogenase 5, which is necessary for normal vision, especially in low-light conditions (night vision). This enzyme is found in a thin layer of cells at the back of the eye called the retinal pigment epithelium (RPE). This cell layer supports and nourishes the retina, which is the light-sensitive tissue in the inner lining of the back of the eye (the fundus).
Normal function
The RDH5 gene provides instructions for making an enzyme called 11-cis retinol dehydrogenase 5, which is necessary for normal vision, especially in low-light conditions (night vision). This enzyme is found in a thin layer of cells at the back of the eye called the retinal pigment epithelium (RPE). This cell layer supports and nourishes the retina, which is the light-sensitive tissue in the inner lining of the back of the eye (the fundus).
11-cis retinol dehydrogenase 5 is involved in a multi-step process called the visual cycle, by which light entering the eye is converted into electrical signals that are interpreted as vision. An integral operation of the visual cycle is the recycling of a molecule called 11-cis retinal, which is a form of vitamin A that is needed for the conversion of light to electrical signals. The retinol dehydrogenase 5 enzyme converts a molecule called 11-cis retinol to 11-cis retinal. In light-sensing cells in the retina known as photoreceptors, 11-cis retinal combines with a protein called an opsin to form a photosensitive pigment. When light hits this pigment, 11-cis retinal is altered, forming another molecule called all-trans retinal. This conversion triggers a series of chemical reactions that create electrical signals. 11-cis retinol dehydrogenase 5 then helps convert all-trans retinal back to 11-cis retinal so the visual cycle can begin again.
The eyes contain two types of photoreceptors, rods and cones. Rods are needed for vision in low light, while cones are needed for vision in bright light, including colour vision. Rods primarily use 11-cis retinol dehydrogenase 5 to generate 11-cis retinal. Cones also use 11-cis retinol dehydrogenase 5, but they are thought to have additional pathways to produce 11-cis retinal.
Conditions referring to this gene or chromosome
Other names
11-cis RDH
11-cis retinol dehydrogenase precursor
11-cis RoDH
9-cis retinol dehydrogenase
9-cis-retinol specific dehydrogenase
9cRDH
HSD17B9
RDH1
retinol dehydrogenase 1
retinol dehydrogenase 5 (11-cis and 9-cis)
retinol dehydrogenase 5 (11-cis/9-cis)
SDR9C5
short chain dehydrogenase/reductase family 9C member 5
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Further reading and references
- retinol dehydrogenase 5; MedlinePlus, National Library of Medicine.
- Driessen CA, Winkens HJ, Hoffmann K, Kuhlmann LD, Janssen BP, Van Vugt AH, Van Hooser JP, Wieringa BE, Deutman AF, Palczewski K, Ruether K, Janssen JJ. Disruption of the 11-cis-retinol dehydrogenase gene leads to accumulation of cis-retinols and cis-retinyl esters. Mol Cell Biol. 2000 Jun;20(12):4275-87. doi: 10.1128/MCB.20.12.4275-4287.2000.
- Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Eckstein C, Rosenberg T. Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5. Retina. 2010 Nov-Dec;30(10):1704-13. doi: 10.1097/IAE.0b013e3181dc050a.
- Sergouniotis PI, Sohn EH, Li Z, McBain VA, Wright GA, Moore AT, Robson AG, Holder GE, Webster AR. Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus). Ophthalmology. 2011 Aug;118(8):1661-70. doi: 10.1016/j.ophtha.2010.12.031. Epub 2011 Apr 29.
- Skorczyk-Werner A, Pawlowski P, Michalczuk M, Warowicka A, Wawrocka A, Wicher K, Bakunowicz-Lazarczyk A, Krawczynski MR. Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe). J Appl Genet. 2015 Aug;56(3):317-27. doi: 10.1007/s13353-015-0281-x. Epub 2015 Mar 28.
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