RDH11

RDH11
Identifiers
Aliases	RDH11, ARSDR1, CGI82, HCBP12, MDT1, PSDR1, RALR1, SCALD, SDR7C1, RDJCSS, retinol dehydrogenase 11 (all-trans/9-cis/11-cis), retinol dehydrogenase 11
External IDs	OMIM: 607849; MGI: 102581; HomoloGene: 100724; GeneCards: RDH11; OMA:RDH11 - orthologs
Gene location (Human)
Chr.	Chromosome 14 (human)
End	67,695,793 bp
RNA expression pattern
	Top expressed in
	retinal pigment epithelium; ; islet of Langerhans; ; Brodmann area 23; ; kidney tubule; ; pars compacta; ; tibia; ; skin of thigh; ; pars reticulata; ; corpus epididymis; ; vulva;
	n/a
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	oxidoreductase activity; oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor; NADP-retinol dehydrogenase activity; NAD-retinol dehydrogenase activity; protein binding; aldehyde dehydrogenase (NADP+) activity;
Cellular component	integral component of membrane; intracellular anatomical structure; endoplasmic reticulum membrane; membrane; endoplasmic reticulum; photoreceptor inner segment;
Biological process	retinoid metabolic process; retinol metabolic process; retinal metabolic process; adaptation of rhodopsin mediated signaling; visual perception; cellular detoxification of aldehyde;
	Sources:Amigo / QuickGO
Orthologs
	51109
	17252
	ENSG00000072042
	n/a
	Q8TC12
	Q9QYF1
	NM_016026; NM_001252650
	NM_021557; NM_001362269; NM_001362270
	NP_001239579; NP_057110
	NP_067532; NP_001349198; NP_001349199
	Wikidata
View/Edit Human	View/Edit Mouse

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

Template:PBB Summary

Clinical significance

Mutations in RDH11 are associated to Template:SWL.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000072042 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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: 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.
^ 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.
^ "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.

Clinical significance

References

Further reading