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RDH5 encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. Additionally we are shipping Retinol Dehydrogenase 5 (11-Cis/9-Cis) Proteins (4) and Retinol Dehydrogenase 5 (11-Cis/9-Cis) Kits (3) and many more products for this protein.
Showing 10 out of 40 products:
Human Polyclonal RDH5 Primary Antibody for ELISA, WB - ABIN562619
Locke, Guns, Lubik, Adomat, Hendy, Wood, Ettinger, Gleave, Nelson: Androgen levels increase by intratumoral de novo steroidogenesis during progression of castration-resistant prostate cancer. in Cancer research 2008
Show all 3 Pubmed References
Human Polyclonal RDH5 Primary Antibody for ELISA, IHC - ABIN4349765
Persson, Kallberg, Bray, Bruford, Dellaporta, Favia, Duarte, Jörnvall, Kavanagh, Kedishvili, Kisiela, Maser, Mindnich, Orchard, Penning, Thornton, Adamski, Oppermann: The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. in Chemico-biological interactions 2009
a novel homozygous missense mutation, (c.602 C > T) in exon 4 of the RDH5 gene (MIM (show MTSS1 Antibodies): 601617) was identified. This mutation resulted in substitution of phenyl alanine for serine at amino acid 201 (p.Ser201Phe) of the RDH5 gene. Identification of this mutation reveals the allelic heterogeneity of RDH5 in patients with retinitis pigmentosa phenotype.
We conclude that the expression of Rlbp1 (show RLBP1 Antibodies) and Rdh5 critically depends on functional Mitf (show MITF Antibodies) in the RPE (show RPE Antibodies) and suggest that MITF (show MITF Antibodies) has an important role in controlling retinoid processing in the RPE (show RPE Antibodies).
A novel c.832C>T (p.Arg278Ter) nonsense mutation in RDH5 was identified. Preserved rod function was observed in one young subject in this study.
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.
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.
The proband had a compound heterozygotic missense mutation of Cys59Ser (TGC (show TGM2 Antibodies) --> AGC (show ACAN Antibodies)) and a nonsense mutation of Trp95ter (TGG --> TGA (show TBX1 Antibodies)) in the RDH5 gene.
The clinical and electrophysiologic phenotype of patients with RDH5 retinopathy is variable.
Mutations in RDH5 associated with fundus albipunctatus seem to prevent normal lipofuscin accumulation.
Macular dystrophy is caused by the RDH5 mutation as a phenotype variation in fundus albipunctus.
Macular dystrophy is caused by the RDH5 gene mutation as a phenotype variation in fundus albipunctatus.
The role of Rgr (show RGR Antibodies) using rgr (show RGR Antibodies)-/- single and rdh5-/-rgr (show RGR Antibodies)-/- double knockout mice under a number of light conditions was studied; results suggest that RGR (show RGR Antibodies) and RDH5 are likely to function in the retinoid cycle, although their role is not essential
RDH11 (show RDH11 Antibodies) has a measurable role in regenerating the visual pigment by complementing RDH5 in retinal pigment epithelium.
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.
, 11-cis RoDH
, 11-cis retinol dehydrogenase
, 9-cis retinol dehydrogenase
, 9-cis-retinol specific dehydrogenase
, retinol dehydrogenase 1
, retinol dehydrogenase 5 (11-cis and 9-cis)
, short chain dehydrogenase/reductase family 9C, member 5
, retinol dehydrogenase 5 (11-cis/9-cis)
, 9-cis-retinol dehydrogenase
, cis-retinol dehydrogenase
, retinol dehydrogenase type 5