RDH5


RDH5

Retinol dehydrogenase 5 (11-cis/9-cis), also known as RDH5, is a human gene.cite web | title = Entrez Gene: RDH5 retinol dehydrogenase 5 (11-cis/9-cis)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5959| accessdate = ]

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References

Further reading

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*cite journal | author=Simon A, Hellman U, Wernstedt C, Eriksson U |title=The retinal pigment epithelial-specific 11-cis retinol dehydrogenase belongs to the family of short chain alcohol dehydrogenases. |journal=J. Biol. Chem. |volume=270 |issue= 3 |pages= 1107–12 |year= 1995 |pmid= 7836368 |doi=
*cite journal | author=Simon A, Lagercrantz J, Bajalica-Lagercrantz S, Eriksson U |title=Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene. |journal=Genomics |volume=36 |issue= 3 |pages= 424–30 |year= 1997 |pmid= 8884265 |doi= 10.1006/geno.1996.0487
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Mertz JR, Shang E, Piantedosi R, "et al." |title=Identification and characterization of a stereospecific human enzyme that catalyzes 9-cis-retinol oxidation. A possible role in 9-cis-retinoic acid formation. |journal=J. Biol. Chem. |volume=272 |issue= 18 |pages= 11744–9 |year= 1997 |pmid= 9115228 |doi=
*cite journal | author=Wang J, Chai X, Eriksson U, Napoli JL |title=Activity of human 11-cis-retinol dehydrogenase (Rdh5) with steroids and retinoids and expression of its mRNA in extra-ocular human tissue. |journal=Biochem. J. |volume=338 ( Pt 1) |issue= |pages= 23–7 |year= 1999 |pmid= 9931293 |doi=
*cite journal | author=Yamamoto H, Simon A, Eriksson U, "et al." |title=Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. |journal=Nat. Genet. |volume=22 |issue= 2 |pages= 188–91 |year= 1999 |pmid= 10369264 |doi= 10.1038/9707
*cite journal | author=Gonzalez-Fernandez F, Kurz D, Bao Y, "et al." |title=11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. |journal=Mol. Vis. |volume=5 |issue= |pages= 41 |year= 2000 |pmid= 10617778 |doi=
*cite journal | author=Nakamura M, Hotta Y, Tanikawa A, "et al." |title=A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. |journal=Invest. Ophthalmol. Vis. Sci. |volume=41 |issue= 12 |pages= 3925–32 |year= 2000 |pmid= 11053295 |doi=
*cite journal | author=Kuroiwa S, Kikuchi T, Yoshimura N |title=A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. |journal=Am. J. Ophthalmol. |volume=130 |issue= 5 |pages= 672–5 |year= 2000 |pmid= 11078852 |doi=
*cite journal | author=Chen P, Lee TD, Fong HK |title=Interaction of 11-cis-retinol dehydrogenase with the chromophore of retinal g protein-coupled receptor opsin. |journal=J. Biol. Chem. |volume=276 |issue= 24 |pages= 21098–104 |year= 2001 |pmid= 11274198 |doi= 10.1074/jbc.M010441200
*cite journal | author=Driessen CA, Janssen BP, Winkens HJ, "et al." |title=Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. |journal=Ophthalmology |volume=108 |issue= 8 |pages= 1479–84 |year= 2001 |pmid= 11470705 |doi=
*cite journal | author=Nakamura M, Miyake Y |title=Macular dystrophy in a 9-year-old boy with fundus albipunctatus. |journal=Am. J. Ophthalmol. |volume=133 |issue= 2 |pages= 278–80 |year= 2002 |pmid= 11812441 |doi=
*cite journal | author=Haeseleer F, Jang GF, Imanishi Y, "et al." |title=Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina. |journal=J. Biol. Chem. |volume=277 |issue= 47 |pages= 45537–46 |year= 2003 |pmid= 12226107 |doi= 10.1074/jbc.M208882200
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Wu Z, Yang Y, Shaw N, "et al." |title=Mapping the ligand binding pocket in the cellular retinaldehyde binding protein. |journal=J. Biol. Chem. |volume=278 |issue= 14 |pages= 12390–6 |year= 2003 |pmid= 12536149 |doi= 10.1074/jbc.M212775200
*cite journal | author=Hotta K, Nakamura M, Kondo M, "et al." |title=Macular dystrophy in a Japanese family with fundus albipunctatus. |journal=Am. J. Ophthalmol. |volume=135 |issue= 6 |pages= 917–9 |year= 2003 |pmid= 12788147 |doi=
*cite journal | author=Sekiya K, Nakazawa M, Ohguro H, "et al." |title=Long-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene. |journal=Arch. Ophthalmol. |volume=121 |issue= 7 |pages= 1057–9 |year= 2003 |pmid= 12860821 |doi= 10.1001/archopht.121.7.1057-b
*cite journal | author=Nakamura M, Skalet J, Miyake Y |title=RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus. |journal=Documenta ophthalmologica. Advances in ophthalmology |volume=107 |issue= 1 |pages= 3–11 |year= 2003 |pmid= 12906118 |doi=
*cite journal | author=Yamamoto H, Yakushijin K, Kusuhara S, "et al." |title=A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots. |journal=Am. J. Ophthalmol. |volume=136 |issue= 3 |pages= 572–4 |year= 2003 |pmid= 12967826 |doi=
*cite journal | author=Sato M, Oshika T, Kaji Y, Nose H |title=A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa. |journal=Ophthalmic Res. |volume=36 |issue= 1 |pages= 43–50 |year= 2004 |pmid= 15007239 |doi= 10.1159/000076109

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  • Short-chain dehydrogenase — Pfam box Symbol = adh short Name = short chain dehydrogenase width = caption = Pfam= PF00106 InterPro= IPR002198 SMART= PROSITE = PDOC00060 SCOP = 1hdc TCDB = OPM family= 127 OPM protein= 1xu7 PDB=PDB3|1edoA:78 246 PDB3|1zbqA:10 183 PDB3|1gz6A:10 …   Wikipedia