Retinol dehydrogenase 12 is an enzyme that in humans is encoded by the RDH12 gene .[5] [6] [7]
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][7]
References
edit
Further reading
edit
Stockton DW, Lewis RA, Abboud EB, et al. (1998). "A novel locus for Leber congenital amaurosis on chromosome 14q24". Human Genetics 103 (3): 328–33. doi :10.1007/s004390050825 . PMID 9799089 . S2CID 13413372 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proceedings of the National Academy of Sciences of the United States of America 99 (26): 16899–903. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nature Genetics 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Janecke AR, Thompson DA, Utermann G, et al. (2004). "Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy". Nat. Genet . 36 (8): 850–4. doi :10.1038/ng1394 . PMID 15258582 . S2CID 11758794 . Perrault I, Hanein S, Gerber S, et al. (2004). "Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis" . American Journal of Human Genetics 75 (4): 639–46. doi :10.1086/424889 . PMC 1182050 PMID 15322982 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)" . Genome Research 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Belyaeva OV, Korkina OV, Stetsenko AV, et al. (2005). "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" . Biochemistry 44 (18): 7035–47. doi :10.1021/bi050226k . PMC 2679700 PMID 15865448 . Jacobson SG, Cideciyan AV, Aleman TS, et al. (2007). "RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression" . Investigative Ophthalmology & Visual Science 48 (1): 332–8. doi :10.1167/iovs.06-0599 PMID 17197551 . Schuster A, Janecke AR, Wilke R, et al. (2007). "The phenotype of early-onset retinal degeneration in persons with RDH12 mutations" . Invest. Ophthalmol. Vis. Sci . 48 (4): 1824–31. doi :10.1167/iovs.06-0628 PMID 17389517 . Keller B, Adamski J (2007). "RDH12, a retinol dehydrogenase causing Leber's congenital amaurosis, is also involved in steroid metabolism". J. Steroid Biochem. Mol. Biol. 104 (3–5): 190–4. doi :10.1016/j.jsbmb.2007.03.015 . PMID 17512723 . S2CID 22890472 . Sun W, Gerth C, Maeda A, et al. (2007). "Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: Biochemical and clinical evaluations" . Vision Research 47 (15): 2055–66. doi :10.1016/j.visres.2007.04.005 . PMC 2441904 PMID 17512964 .
