Rdh12

Summary

Gene Symbol: Rdh12
Description: retinol dehydrogenase 12
Alias: retinol dehydrogenase 12, retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
Species: rat
Products:     Rdh12

Top Publications

  1. Haeseleer F, Jang G, Imanishi Y, Driessen C, Matsumura M, Nelson P, et al. Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina. J Biol Chem. 2002;277:45537-45546 pubmed publisher
    ..fill the gap in our understanding of 11-cis-retinal and all-trans-retinal transformations in photoreceptor (RDH12) and retinal pigment epithelial cells (RDH11)...
  2. Perrault I, Hanein S, Gerber S, Barbet F, Ducroq D, Dollfus H, et al. Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. Am J Hum Genet. 2004;75:639-46 pubmed
    ..Studying a series of 110 unrelated patients with LCA, we found mutations in the photoreceptor-specific RDH12 gene in a significant subset of patients (4.1%)...
  3. Kiser P, Golczak M, Maeda A, Palczewski K. Key enzymes of the retinoid (visual) cycle in vertebrate retina. Biochim Biophys Acta. 2012;1821:137-51 pubmed publisher
    ..This article is part of a Special Issue entitled: Retinoid and Lipid Metabolism. ..
  4. Daiger S, Sullivan L, Bowne S. Genes and mutations causing retinitis pigmentosa. Clin Genet. 2013;84:132-41 pubmed publisher
    ..In this review, we summarize the current approaches to gene discovery and mutation detection for RP, and indicate pitfalls and unsolved problems. Similar considerations apply to other forms of inherited retinal disease. ..
  5. Wright A, Chakarova C, Abd El Aziz M, Bhattacharya S. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat Rev Genet. 2010;11:273-84 pubmed publisher
    ..Although genetic and mechanistic diversity creates challenges for therapy, some approaches--particularly gene-replacement therapy--are showing considerable promise. ..