RDH12 explained

Retinol dehydrogenase 12 is an enzyme that in humans is encoded by the RDH12 gene.^{[1] [2] [3]}

Retinoids are indispensable light-sensitive elements of vision and also serve as essential modulators of cellular differentiation and proliferation in diverse cell types. RDH12 belongs to a family of dual-specificity retinol dehydrogenases that metabolize both all-trans- and cis-retinols (Haeseleer et al., 2002).[supplied by OMIM]

Further reading

• Stockton DW . A novel locus for Leber congenital amaurosis on chromosome 14q24 . . 103 . 3 . 328–33 . 1998 . 9799089 . 10.1007/s004390050825 . Lewis RA . Abboud EB . Al-Rajhi . A. . Jabak . Monzer . Anderson . Kent L. . Lupski . J. R. . 13413372 .
• Strausberg RL . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . Feingold EA . Grouse LH . Derge . JG . Klausner . RD . Collins . FS . Wagner . L . Shenmen . CM . Schuler . GD . 2002PNAS...9916899M . free .
• Ota T . Complete sequencing and characterization of 21,243 full-length human cDNAs . . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . Suzuki Y . Nishikawa T . Otsuki . Tetsuji . Sugiyama . Tomoyasu . Irie . Ryotaro . Wakamatsu . Ai . Hayashi . Koji . Sato . Hiroyuki . free .
• Janecke AR . Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy . Nat. Genet. . 36 . 8 . 850–4 . 2004 . 15258582 . 10.1038/ng1394 . Thompson DA . Utermann G . Becker . Christian . Hübner . Christian A . Schmid . Eduard . McHenry . Christina L . Nair . Anita R . Rüschendorf . Franz . 11758794 .
• Perrault I . Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis . . 75 . 4 . 639–46 . 2004 . 15322982 . 10.1086/424889 . 1182050 . Hanein S . Gerber S . Barbet . F . Ducroq . D . Dollfus . H . Hamel . C . Dufier . J . Munnich . A .
• Gerhard DS . The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) . . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . Wagner L . Feingold EA . Shenmen . CM . Grouse . LH . Schuler . G . Klein . SL . Old . S . Rasooly . R .
• Belyaeva OV . 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 . . 44 . 18 . 7035–47 . 2005 . 15865448 . 10.1021/bi050226k . 2679700 . Korkina OV . Stetsenko AV . Kim . Tom . Nelson . Peter S. . Kedishvili . Natalia Y. .
• Jacobson SG . RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression . . 48 . 1 . 332–8 . 2007 . 17197551 . 10.1167/iovs.06-0599 . Cideciyan AV . Aleman TS . Sumaroka . A. . Schwartz . S. B. . Windsor . E. A. M. . Roman . A. J. . Heon . E. . Stone . E. M. . free .
• Schuster A . The phenotype of early-onset retinal degeneration in persons with RDH12 mutations . Invest. Ophthalmol. Vis. Sci. . 48 . 4 . 1824–31 . 2007 . 17389517 . 10.1167/iovs.06-0628 . Janecke AR . Wilke R . Schmid . E. . Thompson . D. A. . Utermann . G. . Wissinger . B. . Zrenner . E. . Gal . A. . free .
• Keller B, Adamski J . RDH12, a retinol dehydrogenase causing Leber's congenital amaurosis, is also involved in steroid metabolism . . 104 . 3–5 . 190–4 . 2007 . 17512723 . 10.1016/j.jsbmb.2007.03.015 . 22890472 .
• Sun W . Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: Biochemical and clinical evaluations . . 47 . 15 . 2055–66 . 2007 . 17512964 . 10.1016/j.visres.2007.04.005 . 2441904 . Gerth C . Maeda A . Lodowski . David T. . Van Der Kraak . Lauren . Saperstein . David A. . Héon . Elise . Palczewski . Krzysztof .

Notes and References

1. Haeseleer F, Jang GF, Imanishi Y, Driessen CA, Matsumura M, Nelson PS, Palczewski K . Dual-substrate Specificity Short Chain Retinol Dehydrogenases from the Vertebrate Retina . . 277 . 47 . 45537–46 . Nov 2002 . 12226107 . 1435693 . 10.1074/jbc.M208882200 . free .
2. Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jornvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U . The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative . . 178 . 1–3 . 94–8 . Feb 2009 . 19027726 . 2896744. 10.1016/j.cbi.2008.10.040 . 2009CBI...178...94P .
3. Web site: Entrez Gene: RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis).