RDH12
| Retinol dehydrogenase 12 (all-trans/9-cis/11-cis) | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | RDH12 ; LCA13; LCA3; RP53; SDR7C2 | ||||||||||||
| External IDs | OMIM: 608830 MGI: 1925224 HomoloGene: 110830 GeneCards: RDH12 Gene | ||||||||||||
| EC number | 1.1.1.- | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 145226 | 77974 | |||||||||||
| Ensembl | ENSG00000139988 | ENSMUSG00000021123 | |||||||||||
| UniProt | Q96NR8 | Q8BYK4 | |||||||||||
| RefSeq (mRNA) | NM_152443 | NM_030017 | |||||||||||
| RefSeq (protein) | NP_689656 | NP_084293 | |||||||||||
| Location (UCSC) |
Chr 14: 67.7 – 67.73 Mb |
Chr 12: 79.21 – 79.22 Mb | |||||||||||
| PubMed search | |||||||||||||
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
- ↑ Haeseleer F, Jang GF, Imanishi Y, Driessen CA, Matsumura M, Nelson PS, Palczewski K (Nov 2002). "Dual-substrate Specificity Short Chain Retinol Dehydrogenases from the Vertebrate Retina". J Biol Chem 277 (47): 45537–46. doi:10.1074/jbc.M208882200. PMC 1435693. PMID 12226107.
- ↑ 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 (Feb 2009). "The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative". Chem Biol Interact 178 (1–3): 94–8. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726.
- 1 2 "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". Hum. Genet. 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". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 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". Nat. Genet. 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". Am. J. Hum. Genet. 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 Res. 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". Invest. Ophthalmol. Vis. Sci. 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.
- 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 Res. 47 (15): 2055–66. doi:10.1016/j.visres.2007.04.005. PMC 2441904. PMID 17512964.
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