RDH12
Retinol dehydrogenase 12 is an enzyme that in humans is encoded by the RDH12 gene.[5][6][7]
| RDH12 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | RDH12, LCA13, LCA3, RP53, SDR7C2, retinol dehydrogenase 12 (all-trans/9-cis/11-cis), retinol dehydrogenase 12 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608830; MGI: 1925224; HomoloGene: 110830; GeneCards: RDH12; OMA:RDH12 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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
- GRCh38: Ensembl release 89: ENSG00000139988 – Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000021123 – Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- Haeseleer F, Jang GF, Imanishi Y, et al. (Nov 2002). "Dual-substrate Specificity Short Chain Retinol Dehydrogenases from the Vertebrate Retina". Journal of Biological Chemistry. 277 (47): 45537–46. doi:10.1074/jbc.M208882200. PMC 1435693. PMID 12226107.
- Persson B, Kallberg Y, Bray JE, et al. (Feb 2009). "The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative". Chemico-Biological Interactions. 178 (1–3): 94–8. Bibcode:2009CBI...178...94P. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726.
- "Entrez Gene: RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)".
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. 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.
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