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Retinol dehydrogenase 5

RDH5, retinol dehydrogenase, 11-cis retinol dehydrogenase
This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010] (from NCBI)
Top mentioned proteins: ACID, CIs, CAN, ROD, HAD
Papers on RDH5
Impact of Sample Matrix on Accuracy of Peptide Quantification: Assessment of Calibrator and Internal Standard Selection and Method Validation.
Isoherranen et al., Seattle, United States. In Anal Chem, Feb 2016
The microsomal retinol dehydrogenase (RDH11) and cytosolic soluble aldehyde dehydrogenases (ALDH1As) involved in the synthesis of retinoic acid (RA) were chosen as model proteins.
Retinol dehydrogenase 8 and ATP-binding cassette transporter 4 modulate dark adaptation of M-cones in mammalian retina.
Kefalov et al., Saint Louis, United States. In J Physiol, Dec 2015
We report that two chromophore binding proteins, retinol dehydrogenase 8 (RDH8) and photoreceptor-specific ATP-binding cassette transporter (ABCA4) accelerate the dark adaptation of cones, first, directly, by facilitating the processing of chromophore in cones, and second, indirectly, by accelerating the turnover of chromophore in rods, which is then recycled and delivered to both rods and cones.
Dietary vitamin A supplementation improved reproductive performance by regulating ovarian expression of hormone receptors, caspase-3 and Fas in broiler breeders.
Fan et al., Guangzhou, China. In Poult Sci, Dec 2015
The relative expression of retinol dehydrogenase 10 (RDH10) transcripts in the walls of white follicles increased with 5,400 IU/kg VA supplementation (P < 0.05).
Conditional Ablation of Retinol Dehydrogenase 10 in the Retinal Pigmented Epithelium Causes Delayed Dark Adaption in Mice.
Maeda et al., Cleveland, United States. In J Biol Chem, Dec 2015
Oxidation of 11-cis-retinol to 11-cis-retinal is accomplished by a family of enzymes termed 11-cis-retinol dehydrogenases, including RDH5 and RDH11.
Biochemical properties of retinoid-converting enzymes and biotechnological production of retinoids.
Oh et al., Seoul, South Korea. In Appl Microbiol Biotechnol, Oct 2015
In this article, the biochemical properties and active sites and reaction mechanisms of retinoid-converting enzymes in animals and bacteria, including retinol dehydrogenase, alcohol dehydrogenase, aldo-keto reductase, and aldehyde dehydrogenase, are reviewed.
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).
Krawczyński et al., Poznań, Poland. In J Appl Genet, Aug 2015
This gene encodes the enzyme that is a part of the visual cycle, the 11-cis retinol dehydrogenase.
The 11-cis Retinal Origins of Lipofuscin in the Retina.
Koutalos et al., Charleston, United States. In Prog Mol Biol Transl Sci, 2014
Because the retinol dehydrogenase enzyme present in rod outer segments can reduce all-trans but not 11-cis retinal, lipofuscin precursors are more likely to form from 11-cis than all-trans retinal, even under cyclic light conditions.
Comparison between the behavior of different hydrophobic peptides allowing membrane anchoring of proteins.
Salesse et al., Québec, Canada. In Adv Colloid Interface Sci, 2014
The secondary structure content of the C-terminal peptides of retinol dehydrogenase 8, RGS9-1 anchor protein, lecithin retinol acyl transferase, and of the N-terminal peptide of retinol dehydrogenase 11 has been deduced by prediction tools from their primary sequence as well as by using infrared or circular dichroism analyses.
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
Hammond et al., Rotterdam, Netherlands. In Nat Genet, 2013
The new loci include candidate genes with functions in neurotransmission (GRIA4), ion transport (KCNQ5), retinoic acid metabolism (RDH5), extracellular matrix remodeling (LAMA2 and BMP2) and eye development (SIX6 and PRSS56).
Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature.
Hwang et al., Taiwan. In Doc Ophthalmol, 2012
The proband had a compound heterozygotic missense mutation of Cys59Ser (TGC --> AGC) and a nonsense mutation of Trp95ter (TGG --> TGA) in the RDH5 gene.
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.
Cremers et al., Islamabad, Pakistan. In Mol Vis, 2011
RDH5 sequence analysis revealed a novel five base pair deletion, c.913_917delGTGCT (p.Val305Hisfs*29), in family A, and a novel missense mutation, c.758T>G (p.Met253Arg), in family B with fundus albipunctatus.
Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.
Banin et al., Israel. In Mol Vis, 2011
Four novel RDH5 gene mutations were identified in fundus albipunctatus Israeli patients. Of them, the null mutations c.343C>T (p.R54X) and c. 242delTGCC were the most prevalent.
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
Webster et al., London, United Kingdom. In Ophthalmology, 2011
The clinical and electrophysiologic phenotype of patients with RDH5 retinopathy is variable.
Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5.
Rosenberg et al., Copenhagen, Denmark. In Retina, 2010
Mutations in RDH5 associated with fundus albipunctatus seem to prevent normal lipofuscin accumulation.
DNA demethylase activity maintains intestinal cells in an undifferentiated state following loss of APC.
Jones et al., Salt Lake City, United States. In Cell, 2010
Apc mutants lack retinoic acid as a result of the transcriptional repression of retinol dehydrogenase l1 via a complex that includes Lef1, Groucho2, Ctbp1, Lsd1, and Corest.
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
Gal et al., Innsbruck, Austria. In Nat Genet, 2004
RDH12 maps in this region and encodes a retinol dehydrogenase proposed to function in the visual cycle.
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.
Dryja et al., Boston, United States. In Nat Genet, 1999
Several of the enzymes involved have recently been purified and molecularly cloned; here we focus on 11-cis retinol dehydrogenase (encoded by the gene RDH5; chromosome 12q13-14; ref. 4), the first cloned enzyme in this pathway.
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
Gal et al., Hamburg, Germany. In Nat Genet, 1997
Although the function of RPE65 is not yet known, an important role in the RPE/photoreceptor vitamin-A cycle is suggested by the fact that RPE65 associates both with serum retinol-binding protein and with the RPE-specific 11-cis retinol dehydrogenase, an enzyme active in the synthesis of the visual pigment chromophore 11-cis retinal.
Tsin et al., Japan. In Comp Biochem Physiol B, 1993
UNASSIGNED: Activities of retinylester hydrolase (REHase) and retinol dehydrogenase (RDHase) were detected in the crayfish retina which has two visual pigment chromophores and three stored retinoids.RDHase and 11-cis REHase activities were localized to rhabdomal fraction and enzymes were specific to 11-cis isomers of substrates.
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