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, ...
Driessen,
Winkens,
Haeseleer,
Palczewski,
Janssen,
Golovleva,
Bhattacharya,
Wu,
Shaw,
Yang,
Andrabi,
West,
Burstedt,
Forsman,
Holmgren,
Sandgren,
Noy,
Qin,
Crabb,
Gonzalez-Fernandez,
Kurz,
Bao,
Newman,
Conway,
Young,
Han,
Khani,
Nakamura,
Hotta,
Tanikawa,
Terasaki,
Miyake,
Hotta,
Nakamura,
Kondo,
Ito,
Terasaki,
Miyake,
Hida,
Cideciyan,
Haeseleer,
Fariss,
Aleman,
Jang,
Verlinde,
Marmor,
Jacobson,
Palczewski,
Wada,
Abe,
Sato,
Tamai,
Wada,
Abe,
Fuse,
Tamai,
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Structure and function of retinol dehydrogenases of the short chain dehydrogenase/reductase family. Lidén, M., Tryggvason, K., Eriksson, U. Mol. Aspects Med. (2003)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)