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RDH11

From Wikipedia, the free encyclopedia

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; OMA:RDH11 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000072042Ensembl, 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, et al. (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, et al. (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, et al. (Feb 2009). "The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative". Chem Biol Interact. 178 (1–3): 94–8. Bibcode:2009CBI...178...94P. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726.
  7. ^ a b "Entrez Gene: RDH11 retinol dehydrogenase 11 (all-trans/9-cis/11-cis)".
  8. ^ Xie YA, Lee W, Cai C, et al. (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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