RDH11

Revision as of 16:06, 9 March 2018 by en>Rjwilmsi (→‎Clinical significance: Journal cites:, added 1 PMC)
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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
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RefSeq (mRNA)

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RefSeq (protein)

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Retinol dehydrogenase 11 is an enzyme that in humans is encoded by the RDH11 gene.[1][2][3][4]

RHD11, a member of the short-chain dehydrogenase/reductase (SDR) superfamily of oxidoreductases, is expressed at high levels in prostate epithelium, and its expression is regulated by androgens.[supplied by OMIM][4]

Clinical significance

Mutations in RDH11 are associated to retinitis pigmentosa .[5]

References

  1. 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.
  2. 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.
  3. 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.
  4. 4.0 4.1 "Entrez Gene: RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis)".
  5. 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. PMC 4189905. PMID 24916380.

Further reading