RDH5

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Retinol dehydrogenase 5 (11-cis/9-cis)
Identifiers
Symbols RDH5 ; HSD17B9; RDH1
External IDs Template:OMIM5 Template:MGI HomoloGene2179
RNA expression pattern
File:PBB GE RDH5 210106 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Retinol dehydrogenase 5 (11-cis/9-cis), also known as RDH5, is a human gene.[1]


References

  1. "Entrez Gene: RDH5 retinol dehydrogenase 5 (11-cis/9-cis)".

Further reading

  • Simon A, Hellman U, Wernstedt C, Eriksson U (1995). "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. PMID 7836368.
  • Simon A, Lagercrantz J, Bajalica-Lagercrantz S, Eriksson U (1997). "Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene". Genomics. 36 (3): 424–30. doi:10.1006/geno.1996.0487. PMID 8884265.
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.
  • Mertz JR, Shang E, Piantedosi R; et al. (1997). "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. PMID 9115228.
  • Wang J, Chai X, Eriksson U, Napoli JL (1999). "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. PMID 9931293.
  • Yamamoto H, Simon A, Eriksson U; et al. (1999). "Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus". Nat. Genet. 22 (2): 188–91. doi:10.1038/9707. PMID 10369264.
  • Gonzalez-Fernandez F, Kurz D, Bao Y; et al. (2000). "11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus". Mol. Vis. 5: 41. PMID 10617778.
  • Nakamura M, Hotta Y, Tanikawa A; et al. (2000). "A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene". Invest. Ophthalmol. Vis. Sci. 41 (12): 3925–32. PMID 11053295.
  • Kuroiwa S, Kikuchi T, Yoshimura N (2000). "A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus". Am. J. Ophthalmol. 130 (5): 672–5. PMID 11078852.
  • Chen P, Lee TD, Fong HK (2001). "Interaction of 11-cis-retinol dehydrogenase with the chromophore of retinal g protein-coupled receptor opsin". J. Biol. Chem. 276 (24): 21098–104. doi:10.1074/jbc.M010441200. PMID 11274198.
  • Driessen CA, Janssen BP, Winkens HJ; et al. (2001). "Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus". Ophthalmology. 108 (8): 1479–84. PMID 11470705.
  • Nakamura M, Miyake Y (2002). "Macular dystrophy in a 9-year-old boy with fundus albipunctatus". Am. J. Ophthalmol. 133 (2): 278–80. PMID 11812441.
  • Haeseleer F, Jang GF, Imanishi Y; et al. (2003). "Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina". J. Biol. Chem. 277 (47): 45537–46. doi:10.1074/jbc.M208882200. PMID 12226107.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.
  • Wu Z, Yang Y, Shaw N; et al. (2003). "Mapping the ligand binding pocket in the cellular retinaldehyde binding protein". J. Biol. Chem. 278 (14): 12390–6. doi:10.1074/jbc.M212775200. PMID 12536149.
  • Hotta K, Nakamura M, Kondo M; et al. (2003). "Macular dystrophy in a Japanese family with fundus albipunctatus". Am. J. Ophthalmol. 135 (6): 917–9. PMID 12788147.
  • Sekiya K, Nakazawa M, Ohguro H; et al. (2003). "Long-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene". Arch. Ophthalmol. 121 (7): 1057–9. doi:10.1001/archopht.121.7.1057-b. PMID 12860821.
  • Nakamura M, Skalet J, Miyake Y (2003). "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. PMID 12906118.
  • Yamamoto H, Yakushijin K, Kusuhara S; et al. (2003). "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. PMID 12967826.
  • Sato M, Oshika T, Kaji Y, Nose H (2004). "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. doi:10.1159/000076109. PMID 15007239.

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