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Gene Review

RDH5  -  retinol dehydrogenase 5 (11-cis/9-cis)

Homo sapiens

Synonyms: 11-cis RDH, 11-cis RoDH, 11-cis retinol dehydrogenase, 9-cis retinol dehydrogenase, 9cRDH, ...
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Disease relevance of RDH5

  • Our results suggest that mutant alleles in RDH5 are a cause of fundus albipunctatus, a rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments [1].
  • We evaluated patients with hereditary retinal diseases featuring subretinal spots (retinitis punctata albescens and fundus albipunctatus) and patients with typical dominant or recessive retinitis pigmentosa for mutations in RDH5 [1].
  • Microarray and reverse transcriptase-PCR analyses revealed reduced expression of two retinoid biosynthesis genes: retinol dehydrogenase 5 (RDH5) and retinol dehydrogenase L (RDHL) in colon adenomas and carcinomas as compared with normal colon [2].
  • Consistent with the adenoma and carcinomas samples, seven colon carcinoma cell lines also lacked expression of RDH5 and RDHL [2].
  • PURPOSE: To identify the frequency of a mutation of the RDH5 gene in Japanese patients with hereditary retinal degeneration and to characterize clinical findings for the patients associated with a 1085delC/insGAAG mutation in the RDH5 gene [3].

High impact information on RDH5


Chemical compound and disease context of RDH5


Biological context of RDH5


Anatomical context of RDH5

  • The prototypic enzyme RDH5 and the related enzyme CRAD1 have been shown to face the lumen of the endoplasmic reticulum (ER), suggesting a compartmentalized synthesis of retinal [11].
  • Rdh5 mRNA expression was widespread in extra-ocular tissues with human liver (100% relative expression in extra-ocular tissues only) and mammary gland (97% relative to liver) showing the most intense signals [10].
  • Human fetal tissues also expressed Rdh5 with fetal liver showing the most intense expression among the fetal tissues (20%) [10].
  • Pathways in addition to 11-cis-RDH likely provide 11-cis-retinal for rods and cones and can maintain normal kinetics of visual recovery but only under certain constraints and less efficiently for cone than rod function [12].

Associations of RDH5 with chemical compounds

  • Altered kinetic parameters were observed for RDH5 oxidation of 11-cis-retinol bound to rCRALBP mutants M222A, M225A, and W244F, supporting impaired substrate carrier function [13].
  • Generation of double and triple knockouts will aid in determining if these retinol dehydrogenases are responsible for the remaining 11-cis-retinol oxidation observed in RDH5 knockout animals [14].
  • PATIENTS: We studied the ocular findings in 6 members of a Japanese family with fundus albipunctatus with cone dystrophy and a guanine-to-adenine transversion at the first nucleotide in codon 35 of the RDH5 gene [15].
  • The mutation resulted in a substitution of serine for glycine in amino acid 35 (Gly35Ser) of the RDH5 gene [15].
  • Protein structures were verified by amino acid analysis and mass spectrometry, retinoid binding properties were evaluated by UV-visible and fluorescence spectroscopy and substrate carrier functions were assayed for recombinant 11-cis-retinol dehydrogenase (rRDH5) [16].

Regulatory relationships of RDH5


Other interactions of RDH5


Analytical, diagnostic and therapeutic context of RDH5


  1. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Yamamoto, H., Simon, A., Eriksson, U., Harris, E., Berson, E.L., Dryja, T.P. Nat. Genet. (1999) [Pubmed]
  2. The tumor suppressor adenomatous polyposis coli and caudal related homeodomain protein regulate expression of retinol dehydrogenase L. Jette, C., Peterson, P.W., Sandoval, I.T., Manos, E.J., Hadley, E., Ireland, C.M., Jones, D.A. J. Biol. Chem. (2004) [Pubmed]
  3. A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus. Wada, Y., Abe, T., Fuse, N., Tamai, M. Invest. Ophthalmol. Vis. Sci. (2000) [Pubmed]
  4. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Gu, S.M., Thompson, D.A., Srikumari, C.R., Lorenz, B., Finckh, U., Nicoletti, A., Murthy, K.R., Rathmann, M., Kumaramanickavel, G., Denton, M.J., Gal, A. Nat. Genet. (1997) [Pubmed]
  5. Dual roles for adenomatous polyposis coli in regulating retinoic acid biosynthesis and Wnt during ocular development. Nadauld, L.D., Chidester, S., Shelton, D.N., Rai, K., Broadbent, T., Sandoval, I.T., Peterson, P.W., Manos, E.J., Ireland, C.M., Yost, H.J., Jones, D.A. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  6. Characterization of a dehydrogenase activity responsible for oxidation of 11-cis-retinol in the retinal pigment epithelium of mice with a disrupted RDH5 gene. A model for the human hereditary disease fundus albipunctatus. Jang, G.F., Van Hooser, J.P., Kuksa, V., McBee, J.K., He, Y.G., Janssen, J.J., Driessen, C.A., Palczewski, K. J. Biol. Chem. (2001) [Pubmed]
  7. 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. Gonzalez-Fernandez, F., Kurz, D., Bao, Y., Newman, S., Conway, B.P., Young, J.E., Han, D.P., Khani, S.C. Mol. Vis. (1999) [Pubmed]
  8. A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. Kuroiwa, S., Kikuchi, T., Yoshimura, N. Am. J. Ophthalmol. (2000) [Pubmed]
  9. A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. Nakamura, M., Hotta, Y., Tanikawa, A., Terasaki, H., Miyake, Y. Invest. Ophthalmol. Vis. Sci. (2000) [Pubmed]
  10. Activity of human 11-cis-retinol dehydrogenase (Rdh5) with steroids and retinoids and expression of its mRNA in extra-ocular human tissue. Wang, J., Chai, X., Eriksson, U., Napoli, J.L. Biochem. J. (1999) [Pubmed]
  11. Structure and function of retinol dehydrogenases of the short chain dehydrogenase/reductase family. Lidén, M., Tryggvason, K., Eriksson, U. Mol. Aspects Med. (2003) [Pubmed]
  12. Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man. Cideciyan, A.V., Haeseleer, F., Fariss, R.N., Aleman, T.S., Jang, G.F., Verlinde, C.L., Marmor, M.F., Jacobson, S.G., Palczewski, K. Vis. Neurosci. (2000) [Pubmed]
  13. Mapping the ligand binding pocket in the cellular retinaldehyde binding protein. Wu, Z., Yang, Y., Shaw, N., Bhattacharya, S., Yan, L., West, K., Roth, K., Noy, N., Qin, J., Crabb, J.W. J. Biol. Chem. (2003) [Pubmed]
  14. Novel targeting strategy for generating mouse models with defects in the retinoid cycle. Driessen, C., Winkens, H., Haeseleer, F., Palczewski, K., Janssen, J. Vision Res. (2003) [Pubmed]
  15. A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy. Wada, Y., Abe, T., Sato, H., Tamai, M. Arch. Ophthalmol. (2001) [Pubmed]
  16. Disease-causing mutations in the cellular retinaldehyde binding protein tighten and abolish ligand interactions. Golovleva, I., Bhattacharya, S., Wu, Z., Shaw, N., Yang, Y., Andrabi, K., West, K.A., Burstedt, M.S., Forsman, K., Holmgren, G., Sandgren, O., Noy, N., Qin, J., Crabb, J.W. J. Biol. Chem. (2003) [Pubmed]
  17. Homozygous Deletion Related to Alu Repeats in RLBP1 Causes Retinitis Punctata Albescens. Humbert, G., Delettre, C., S??n??chal, A., Bazalgette, C., Barakat, A., Bazalgette, C., Arnaud, B., Lenaers, G., Hamel, C.P. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  18. Macular dystrophy in a Japanese family with fundus albipunctatus. Hotta, K., Nakamura, M., Kondo, M., Ito, S., Terasaki, H., Miyake, Y., Hida, T. Am. J. Ophthalmol. (2003) [Pubmed]
  19. Interaction of 11-cis-retinol dehydrogenase with the chromophore of retinal g protein-coupled receptor opsin. Chen, P., Lee, T.D., Fong, H.K. J. Biol. Chem. (2001) [Pubmed]
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