RDH11
Template:PBB Retinol dehydrogenase 11 is an enzyme that in humans is encoded by the RDH11 gene.[1][2][3][4]
Clinical significance
Mutations in RDH11 are associated to Template:SWL.[5]
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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link) - ^ Hara T, Harada N, Mitsui H, Miura T, Ishizaka T, Miyajima A (Aug 1994). "Characterization of cell phenotype by a novel cDNA library subtraction system: expression of CD8 alpha in a mast cell-derived interleukin-4-dependent cell line". Blood. 84 (1): 189–99. PMID 8018917.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ 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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ "Entrez Gene: RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis)".
- ^ Xie, Y. A.; Lee, W; Cai, C; Gambin, T; Nõupuu, K; Sujirakul, T; Ayuso, C; Jhangiani, S; Muzny, D; Boerwinkle, E; Gibbs, R; Greenstein, V. C.; Lupski, J. R.; Tsang, S. H.; Allikmets, R (2014). "New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11". Human Molecular Genetics. 23: 5774–5780. doi:10.1093/hmg/ddu291. PMID 24916380.
Further reading
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