Retinol Dehydrogenase 5 (11-Cis/9-Cis) (RDH5) Kits ELISA

RDH5 encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. De plus, nous expédions Retinol Dehydrogenase 5 (11-Cis/9-Cis) Anticorps (38) et Retinol Dehydrogenase 5 (11-Cis/9-Cis) Protéines (4) et beaucoup plus de produits pour cette protéine.

list all ELISA KIts Gène GeneID UniProt
Anti-Humain RDH5 RDH5 5959 Q92781
RDH5 19682  
Anti-Rat RDH5 RDH5 366791  
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Souris 0.1 ng/mL 2.5-50 ng/mL   96 Tests 15 to 18 Days
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  96 Tests 15 to 18 Days
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Plus Kits ELISA pour Retinol Dehydrogenase 5 (11-Cis/9-Cis) partenaires d'interaction

Human Retinol Dehydrogenase 5 (11-Cis/9-Cis) (RDH5) interaction partners

  1. a novel homozygous missense mutation, (c.602 C > T) in exon 4 of the RDH5 gene (MIM: 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.

  2. 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.

  3. 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.

  4. Macular cone density is lower and the regularity of the macular cone mosaic spatial arrangement is disrupted in eyes with fundus albipunctatus.

  5. 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.

  6. 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.

  7. The proband had a compound heterozygotic missense mutation of Cys59Ser (TGC --> AGC) and a nonsense mutation of Trp95ter (TGG --> TGA) in the RDH5 gene.

  8. The clinical and electrophysiologic phenotype of patients with RDH5 retinopathy is variable.

  9. Mutations in RDH5 associated with fundus albipunctatus seem to prevent normal lipofuscin accumulation.

  10. An amino acid important for steroid/retinoid discrimination was identified and its significance was highlighted by the results of molecular modeling studies.

  11. Macular dystrophy is caused by the RDH5 mutation as a phenotype variation in fundus albipunctus.

  12. Macular dystrophy is caused by the RDH5 gene mutation as a phenotype variation in fundus albipunctatus.

  13. Fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene.

  14. RDH5 gene mutations cause a progressive cone dystrophy or macular dystrophy as well as night blindness. The clinical phenotype including electrophysiological responses varied among patients with the RDH5 gene mutations.

  15. A homozygous G490T (Val164Phe) missense RDH5 gene mutation was detected.

  16. Homozygous Gly107Arg mutation in the RDH5 gene in two unrelated Japanese families with fundus albipunctatus.

  17. Cone dystrophy can be present in patients with fundus albipunctatus, not only elderly men but also young women.

  18. Our study indicates that different mutations in the RDH5 gene can cause phenotypic variations of either fundus albipunctatus or familial fleck retina with night blindness.

  19. study describes an unusual family which included a mother with fundus albipunctatus and three children with typical retinitis pigmentosa; a novel RDH5 mutation was found

Mouse (Murine) Retinol Dehydrogenase 5 (11-Cis/9-Cis) (RDH5) interaction partners

  1. cRDH may act essentially in the visual cycle but is redundant for catalyzing 9-cis-retinoic acid formation and 3 alpha-hydroxysteroid metabolism.

  2. The role of Rgr using rgr-/- single and rdh5-/-rgr-/- double knockout mice under a number of light conditions was studied; results suggest that RGR and RDH5 are likely to function in the retinoid cycle, although their role is not essential

  3. RDH11 has a measurable role in regenerating the visual pigment by complementing RDH5 in retinal pigment epithelium.

Retinol Dehydrogenase 5 (11-Cis/9-Cis) (RDH5) profil antigène

Antigen Summary

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.

Gene names and symbols associated with RDH5

  • retinol dehydrogenase 5 (RDH5) anticorps
  • retinol dehydrogenase 5 L homeolog (rdh5.L) anticorps
  • retinol dehydrogenase 5 (11-cis/9-cis) (RDH5) anticorps
  • retinol dehydrogenase 5 (rdh5) anticorps
  • retinol dehydrogenase 5 (11-cis/9-cis) (rdh5) anticorps
  • retinol dehydrogenase 5 (Rdh5) anticorps
  • 9-cis anticorps
  • 9cRDH anticorps
  • AI987873 anticorps
  • cRDH anticorps
  • hsd17b9 anticorps
  • im:6901729 anticorps
  • MGC84134 anticorps
  • rdh1 anticorps
  • RDH4 anticorps
  • RDH5 anticorps
  • SDR9C5 anticorps
  • si:dkey-102c8.5 anticorps

Protein level used designations for RDH5

11-cis RDH , 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 , P32 , retinol dehydrogenase 5 (11-cis/9-cis) , 9-cis-retinol dehydrogenase , cis-retinol dehydrogenase , retinol dehydrogenase type 5

GENE ID SPECIES
5959 Homo sapiens
281448 Bos taurus
444623 Xenopus laevis
467029 Pan troglodytes
481099 Canis lupus familiaris
496830 Xenopus (Silurana) tropicalis
556528 Danio rerio
709644 Macaca mulatta
100598708 Nomascus leucogenys
19682 Mus musculus
366791 Rattus norvegicus
101115199 Ovis aries
395452 Gallus gallus
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