RDH11
Identifiers
AliasesRDH11, ARSDR1, CGI82, HCBP12, MDT1, PSDR1, RALR1, SCALD, SDR7C1, RDJCSS, retinol dehydrogenase 11 (all-trans/9-cis/11-cis), retinol dehydrogenase 11
External IDsOMIM: 607849 MGI: 102581 HomoloGene: 100724 GeneCards: RDH11
Orthologs
SpeciesHumanMouse
Entrez

51109

17252

Ensembl

ENSG00000072042

n/a

UniProt

Q8TC12

Q9QYF1

RefSeq (mRNA)

NM_016026
NM_001252650

NM_021557
NM_001362269
NM_001362270

RefSeq (protein)

NP_001239579
NP_057110

NP_067532
NP_001349198
NP_001349199

Location (UCSC)Chr 14: 67.68 – 67.7 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Retinol dehydrogenase 11 is an enzyme that in humans is encoded by the RDH11 gene.[4][5][6][7]

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][7]

Clinical significance

Mutations in RDH11 are associated to retinitis pigmentosa.[8]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000072042 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. 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.
  5. 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. doi:10.1182/blood.V84.1.189.189. PMID 8018917.
  6. 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.
  7. 1 2 "Entrez Gene: RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis)".
  8. 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 (21): 5774–5780. doi:10.1093/hmg/ddu291. PMC 4189905. PMID 24916380.

Further reading


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