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RDH12  -  retinol dehydrogenase 12 (all-trans/9...

Homo sapiens

Synonyms: All-trans and 9-cis retinol dehydrogenase, FLJ30273, LCA13, LCA3, RP53, ...
 
 
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Disease relevance of RDH12

 

High impact information on RDH12

 

Biological context of RDH12

  • RDH12 exhibits approximately 2000-fold lower K(m) values for NADP(+) and NADPH than for NAD(+) and NADH and recognizes both retinoids and lipid peroxidation products (C(9) aldehydes) as substrates [1].
  • Haplotype analysis in the family in which LCA3 was mapped excluded RDH12 as the LCA3 gene and thus suggests the presence of a novel arRD gene in this region [7].
  • PURPOSE: To describe the retinal dystrophy phenotype associated with mutations in RDH12, the gene encoding a retinoid dehydrogenase/reductase expressed in the photoreceptor cells [8].
 

Anatomical context of RDH12

 

Associations of RDH12 with chemical compounds

  • RDH12 codes for a member of the family of short-chain alcohol dehydrogenases/reductases proposed to function in the visual cycle that supplies the chromophore 11-cis retinal to photoreceptor cells [6].
  • Furthermore, photoreceptor RDH12 could be involved in the production of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments [9].
  • RESULTS: Retinal architecture of patients with RDH12 mutations was appreciably distorted, precluding identification of the normal laminae [4].
 

Other interactions of RDH12

  • Mutations in RDH12 cause severe and progressive childhood onset autosomal-recessive retinal dystrophy, including Leber congenital amaurosis [6].
  • A comparison with the structural and functional consequences in patients with mutations in RPE65 indicated that the pathogenesis of retinal degeneration in RDH12 mutations was distinctly different [4].
 

Analytical, diagnostic and therapeutic context of RDH12

References

  1. 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) [Pubmed]
  2. 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) [Pubmed]
  3. 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) [Pubmed]
  4. 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) [Pubmed]
  5. 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) [Pubmed]
  6. 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) [Pubmed]
  7. 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) [Pubmed]
  8. 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) [Pubmed]
  9. 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) [Pubmed]
  10. 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) [Pubmed]
 
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