RDH5 Antibody – Goat Polyclonal

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]

RDH5: Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and 13-cis-retinol, but not all- trans-retinol. Active in the presence of NAD as cofactor but not in the presence of NADP. Defects in RDH5 are a cause of retinitis punctata albescens (RPA); also known as fundus albipunctatus (FA). RPA is a rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments. Belongs to the short-chain dehydrogenases/reductases (SDR) family.

Protein type: EC 1.1.1.315; Endoplasmic reticulum; Cofactor and Vitamin Metabolism - retinol; Oxidoreductase

Chromosomal Location of Human Ortholog: 12q13-q14

Cellular Component: endoplasmic reticulum lumen; endoplasmic reticulum membrane

Molecular Function: retinol dehydrogenase activity

Biological Process: response to stimulus; retinoid metabolic process; retinol metabolic process; visual perception

Disease: Fundus Albipunctatus