Biology:RDH12
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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][3]
References
- ↑ "Dual-substrate Specificity Short Chain Retinol Dehydrogenases from the Vertebrate Retina". Journal of Biological Chemistry 277 (47): 45537–46. Nov 2002. doi:10.1074/jbc.M208882200. PMID 12226107.
- ↑ "The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative". Chemico-Biological Interactions 178 (1–3): 94–8. Feb 2009. doi:10.1016/j.cbi.2008.10.040. PMID 19027726.
- ↑ 3.0 3.1 "Entrez Gene: RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=145226.
Further reading
- 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.
- 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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- 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.
- 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. 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. 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. 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.
- "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. 2007. doi:10.1016/j.jsbmb.2007.03.015. PMID 17512723.
- 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. PMID 17512964.
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