Gene Review:
RDH12 - retinol dehydrogenase 12 (all-trans/9...
Homo sapiens
Synonyms:
All-trans and 9-cis retinol dehydrogenase, FLJ30273, LCA13, LCA3, RP53, ...
Jacobson,
Cideciyan,
Aleman,
Sumaroka,
Schwartz,
Windsor,
Roman,
Heon,
Stone,
Thompson,
Thompson,
Janecke,
Lange,
Feathers,
Hübner,
McHenry,
Stockton,
Rammesmayer,
Lupski,
Antinolo,
Ayuso,
Baiget,
Gouras,
Heckenlively,
den Hollander,
Jacobson,
Lewis,
Sieving,
Wissinger,
Yzer,
Zrenner,
Utermann,
Gal,
- Biochemical properties of purified human retinol dehydrogenase 12 (RDH12): catalytic efficiency toward retinoids and C9 aldehydes and effects of cellular retinol-binding protein type I (CRBPI) and cellular retinaldehyde-binding protein (CRALBP) on the oxidation and reduction of retinoids. Belyaeva, O.V., Korkina, O.V., Stetsenko, A.V., Kim, T., Nelson, P.S., Kedishvili, N.Y. Biochemistry (2005)
- Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.L., Munnich, A., Kaplan, J., Rozet, J.M. Am. J. Hum. Genet. (2004)
- Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Thompson, D.A., Janecke, A.R., Lange, J., Feathers, K.L., Hübner, C.A., McHenry, C.L., Stockton, D.W., Rammesmayer, G., Lupski, J.R., Antinolo, G., Ayuso, C., Baiget, M., Gouras, P., Heckenlively, J.R., den Hollander, A., Jacobson, S.G., Lewis, R.A., Sieving, P.A., Wissinger, B., Yzer, S., Zrenner, E., Utermann, G., Gal, A. Hum. Mol. Genet. (2006)
- RDH12 and RPE65, Visual Cycle Genes Causing Leber Congenital Amaurosis, Differ in Disease Expression. Jacobson, S.G., Cideciyan, A.V., Aleman, T.S., Sumaroka, A., Schwartz, S.B., Windsor, E.A., Roman, A.J., Heon, E., Stone, E.M., Thompson, D.A. Invest. Ophthalmol. Vis. Sci. (2007)
- Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Janecke, A.R., Thompson, D.A., Utermann, G., Becker, C., Hübner, C.A., Schmid, E., McHenry, C.L., Nair, A.R., Rüschendorf, F., Heckenlively, J., Wissinger, B., Nürnberg, P., Gal, A. Nat. Genet. (2004)
- Targeted disruption of the murine retinal dehydrogenase gene rdh12 does not limit visual cycle function. Kurth, I., Thompson, D.A., Rüther, K., Feathers, K.L., Chrispell, J.D., Schroth, J., McHenry, C.L., Schweizer, M., Skosyrski, S., Gal, A., Hübner, C.A. Mol. Cell. Biol. (2007)
- Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Thompson, D.A., Janecke, A.R., Lange, J., Feathers, K.L., Hübner, C.A., McHenry, C.L., Stockton, D.W., Rammesmayer, G., Lupski, J.R., Antinolo, G., Ayuso, C., Baiget, M., Gouras, P., Heckenlively, J.R., den Hollander, A., Jacobson, S.G., Lewis, R.A., Sieving, P.A., Wissinger, B., Yzer, S., Zrenner, E., Utermann, G., Gal, A. Hum. Mol. Genet. (2005)
- The Phenotype of Early-Onset Retinal Degeneration in Persons with RDH12 Mutations. Schuster, A., Janecke, A.R., Wilke, R., Schmid, E., Thompson, D.A., Utermann, G., Wissinger, B., Zrenner, E., Gal, A. Invest. Ophthalmol. Vis. Sci. (2007)
- Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina. Haeseleer, F., Jang, G.F., Imanishi, Y., Driessen, C.A., Matsumura, M., Nelson, P.S., Palczewski, K. J. Biol. Chem. (2002)
- Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Yzer, S., Leroy, B.P., De Baere, E., de Ravel, T.J., Zonneveld, M.N., Voesenek, K., Kellner, U., Ciriano, J.P., de Faber, J.T., Rohrschneider, K., Roepman, R., den Hollander, A.I., Cruysberg, J.R., Meire, F., Casteels, I., van Moll-Ramirez, N.G., Allikmets, R., van den Born, L.I., Cremers, F.P. Invest. Ophthalmol. Vis. Sci. (2006)