RDH5 explained

11-cis retinol dehydrogenase is an enzyme that in humans is encoded by the RDH5 gene.^{[1] [2] [3] [4]}

Further reading

• Simon A, Hellman U, Wernstedt C, Eriksson U . The retinal pigment epithelial-specific 11-cis retinol dehydrogenase belongs to the family of short chain alcohol dehydrogenases . J. Biol. Chem. . 270 . 3 . 1107–12 . 1995 . 7836368 . 10.1074/jbc.270.3.1107 . free .
• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Res. . 6 . 9 . 791–806 . 1997 . 8889548 . 10.1101/gr.6.9.791 . free .
• Wang J, Chai X, Eriksson U, Napoli JL . Activity of human 11-cis-retinol dehydrogenase (Rdh5) with steroids and retinoids and expression of its mRNA in extra-ocular human tissue . Biochem. J. . 338 . Pt 1. 23–7 . 1999 . 9931293 . 10.1042/0264-6021:3380023 . 1220019 .
• Yamamoto H, Simon A, Eriksson U, etal . Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus . Nat. Genet. . 22 . 2 . 188–91 . 1999 . 10369264 . 10.1038/9707 . 566998 .
• Gonzalez-Fernandez F, Kurz D, Bao Y, etal . 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus . Mol. Vis. . 5 . 41 . 2000 . 10617778 .
• Nakamura M, Hotta Y, Tanikawa A, etal . A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene . Invest. Ophthalmol. Vis. Sci. . 41 . 12 . 3925–32 . 2000 . 11053295 .
• Kuroiwa S, Kikuchi T, Yoshimura N . A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus . Am. J. Ophthalmol. . 130 . 5 . 672–5 . 2000 . 11078852 . 10.1016/S0002-9394(00)00765-0 .
• Chen P, Lee TD, Fong HK . Interaction of 11-cis-retinol dehydrogenase with the chromophore of retinal g protein-coupled receptor opsin . J. Biol. Chem. . 276 . 24 . 21098–104 . 2001 . 11274198 . 10.1074/jbc.M010441200 . free .
• Driessen CA, Janssen BP, Winkens HJ, etal . Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus . Ophthalmology . 108 . 8 . 1479–84 . 2001 . 11470705 . 10.1016/S0161-6420(01)00640-6 .
• Nakamura M, Miyake Y . Macular dystrophy in a 9-year-old boy with fundus albipunctatus . Am. J. Ophthalmol. . 133 . 2 . 278–80 . 2002 . 11812441 . 10.1016/S0002-9394(01)01304-6 .
• Haeseleer F, Jang GF, Imanishi Y, etal . Dual-substrate Specificity Short Chain Retinol Dehydrogenases from the Vertebrate Retina . J. Biol. Chem. . 277 . 47 . 45537–46 . 2003 . 12226107 . 10.1074/jbc.M208882200 . 1435693 . free .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Wu Z, Yang Y, Shaw N, etal . Mapping the ligand binding pocket in the cellular retinaldehyde binding protein . J. Biol. Chem. . 278 . 14 . 12390–6 . 2003 . 12536149 . 10.1074/jbc.M212775200 . free .
• Hotta K, Nakamura M, Kondo M, etal . Macular dystrophy in a Japanese family with fundus albipunctatus . Am. J. Ophthalmol. . 135 . 6 . 917–9 . 2003 . 12788147 . 10.1016/S0002-9394(02)02290-0 .
• Sekiya K, Nakazawa M, Ohguro H, etal . Long-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene . Arch. Ophthalmol. . 121 . 7 . 1057–9 . 2003 . 12860821 . 10.1001/archopht.121.7.1057-b .
• Nakamura M, Skalet J, Miyake Y . RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus . Documenta Ophthalmologica. Advances in Ophthalmology . 107 . 1 . 3–11 . 2003 . 12906118 . 10.1023/A:1024498826904 . 12265365 .
• Yamamoto H, Yakushijin K, Kusuhara S, etal . A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots . Am. J. Ophthalmol. . 136 . 3 . 572–4 . 2003 . 12967826 . 10.1016/S0002-9394(03)00332-5 .
• Sato M, Oshika T, Kaji Y, Nose H . A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa . Ophthalmic Res. . 36 . 1 . 43–50 . 2004 . 15007239 . 10.1159/000076109 . 34078786 .

Notes and References

1. Mertz JR, Shang E, Piantedosi R, Wei S, Wolgemuth DJ, Blaner WS . Identification and characterization of a stereospecific human enzyme that catalyzes 9-cis-retinol oxidation. A possible role in 9-cis-retinoic acid formation . J Biol Chem . 272 . 18 . 11744–9 . Jun 1997 . 9115228 . 10.1074/jbc.272.18.11744 . free .
2. Simon A, Lagercrantz J, Bajalica-Lagercrantz S, Eriksson U . Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene . Genomics . 36 . 3 . 424–30 . Feb 1997 . 8884265 . 10.1006/geno.1996.0487 .
3. Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jornvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U . The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative . Chem Biol Interact . 178 . 1–3 . 94–8 . Feb 2009 . 19027726 . 2896744. 10.1016/j.cbi.2008.10.040 . 2009CBI...178...94P .
4. Web site: Entrez Gene: RDH5 retinol dehydrogenase 5 (11-cis/9-cis).