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RDH5 encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family.
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We conclude that the expression of Rlbp1 and Rdh5 critically depends on functional Mitf in the RPE and suggest that MITF has an important role in controlling retinoid processing in the RPE.
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 ELISA Kits) --> AGC (show ACAN ELISA Kits)) and a nonsense mutation of Trp95ter (TGG --> TGA (show TBX1 ELISA Kits)) 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.
Fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene.
The role of Rgr (show RGR ELISA Kits) using rgr (show RGR ELISA Kits)-/- single and rdh5-/-rgr (show RGR ELISA Kits)-/- double knockout mice under a number of light conditions was studied; results suggest that RGR (show RGR ELISA Kits) and RDH5 are likely to function in the retinoid cycle, although their role is not essential
RDH11 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