- RDH12
Retinol dehydrogenase 12 (all-trans/9-cis/11-cis), also known as RDH12, is a human
gene .cite web | title = Entrez Gene: RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=145226| accessdate = ]PBB_Summary
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summary_text = Retinoids are indispensable light-sensitive elements of vision and also serve as essential modulators of cellular differentiation and proliferation in diverse cell types. RDH12 belongs to a family of dual-specificity retinol dehydrogenases that metabolize both all-trans- and cis-retinols (Haeseleer et al., 2002). [supplied by OMIM] cite web | title = Entrez Gene: RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=145226| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Stockton DW, Lewis RA, Abboud EB, "et al." |title=A novel locus for Leber congenital amaurosis on chromosome 14q24. |journal=Hum. Genet. |volume=103 |issue= 3 |pages= 328–33 |year= 1998 |pmid= 9799089 |doi=
*cite journal | author=Haeseleer F, Jang GF, Imanishi Y, "et al." |title=Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina. |journal=J. Biol. Chem. |volume=277 |issue= 47 |pages= 45537–46 |year= 2003 |pmid= 12226107 |doi= 10.1074/jbc.M208882200
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Janecke AR, Thompson DA, Utermann G, "et al." |title=Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. |journal=Nat. Genet. |volume=36 |issue= 8 |pages= 850–4 |year= 2004 |pmid= 15258582 |doi= 10.1038/ng1394
*cite journal | author=Perrault I, Hanein S, Gerber S, "et al." |title=Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. |journal=Am. J. Hum. Genet. |volume=75 |issue= 4 |pages= 639–46 |year= 2004 |pmid= 15322982 |doi= 10.1086/424889
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Belyaeva OV, Korkina OV, Stetsenko AV, "et al." |title=Biochemical properties of purified human retinol dehydrogenase 12 (RDH12): catalytic efficiency toward retinoids and C9 aldehydes and effects of cellular retinol-binding protein type I (CRBPI) and cellular retinaldehyde-binding protein (CRALBP) on the oxidation and reduction of retinoids. |journal=Biochemistry |volume=44 |issue= 18 |pages= 7035–47 |year= 2005 |pmid= 15865448 |doi= 10.1021/bi050226k
*cite journal | author=Jacobson SG, Cideciyan AV, Aleman TS, "et al." |title=RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression. |journal=Invest. Ophthalmol. Vis. Sci. |volume=48 |issue= 1 |pages= 332–8 |year= 2007 |pmid= 17197551 |doi= 10.1167/iovs.06-0599
*cite journal | author=Schuster A, Janecke AR, Wilke R, "et al." |title=The phenotype of early-onset retinal degeneration in persons with RDH12 mutations. |journal=Invest. Ophthalmol. Vis. Sci. |volume=48 |issue= 4 |pages= 1824–31 |year= 2007 |pmid= 17389517 |doi= 10.1167/iovs.06-0628
*cite journal | author=Keller B, Adamski J |title=RDH12, a retinol dehydrogenase causing Leber's congenital amaurosis, is also involved in steroid metabolism. |journal=J. Steroid Biochem. Mol. Biol. |volume=104 |issue= 3-5 |pages= 190–4 |year= 2007 |pmid= 17512723 |doi= 10.1016/j.jsbmb.2007.03.015
*cite journal | author=Sun W, Gerth C, Maeda A, "et al." |title=Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations. |journal=Vision Res. |volume=47 |issue= 15 |pages= 2055–66 |year= 2007 |pmid= 17512964 |doi= 10.1016/j.visres.2007.04.005PBB_Controls
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