RDH11

Retinol dehydrogenase 11 (all-trans/9-cis/11-cis)
Identifiers
Symbols RDH11 ; ARSDR1; CGI82; HCBP12; MDT1; PSDR1; RALR1; RDJCSS; SCALD; SDR7C1
External IDs OMIM: 607849 MGI: 102581 HomoloGene: 100724 GeneCards: RDH11 Gene
EC number 1.1.1.300
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 51109 17252
Ensembl ENSG00000072042 ENSMUSG00000066441
UniProt Q8TC12 Q9QYF1
RefSeq (mRNA) NM_001252650 NM_021557
RefSeq (protein) NP_001239579 NP_067532
Location (UCSC) Chr 14:
67.68 – 67.7 Mb
Chr 12:
79.17 – 79.19 Mb
PubMed search

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. 1 2 "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. PMID 24916380.

Further reading


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