Target intelligence / Profile preview

11-cis retinol dehydrogenase 5 (RDH5)

Target
RDH5
Molecular classification
Enzyme, Oxidoreductase, Short chain dehydrogenase/reductase (SDR) family
01

Overview

11-cis retinol dehydrogenase 5 (RDH5) is a retinal enzyme present predominantly in the retinal pigment epithelium (RPE), essential for the visual cycle by oxidizing 11-cis retinol to 11-cis retinal—the chromophore for rod and cone opsins, thereby enabling phototransduction and normal vision, especially in low-light conditions[1][2][3]. RDH5 deficiency due to genetic mutations causes accumulation of cis-retinols and impaired chromophore regeneration, leading to stationary night blindness (fundus albipunctatus) and, in many cases, progressive degeneration of the macula over time[1][2][3]. The gene is an important research and clinical target for inherited retinal diseases and is classified within the short chain dehydrogenase/reductase enzyme family[1][3]. There are no commonly used drugs that target RDH5 specifically; however, gene or enzyme therapy may be a future direction for treating associated retinopathies[2].

Other names
11-cis RDH11-cis RoDH11-cis retinol dehydrogenase9-cis retinol dehydrogenase9-cis-retinol specific dehydrogenase9cRDHHSD17B9RDH1SDR9C5short chain dehydrogenase/reductase family 9C member 5retinol dehydrogenase 1retinol dehydrogenase 5 (11-cis and 9-cis)retinol dehydrogenase 5 (11-cis/9-cis)
02

Mechanism of action

Enzymatic oxidation of 11-cis retinol to 11-cis retinal using NAD+ as a cofactor

03

Biological functions

Visual cycle (retinoid cycle)Vitamin A metabolismConversion of 11-cis retinol to 11-cis retinalGeneration of chromophore (11-cis retinal) for opsin proteins in photoreceptors
04

Disease associations

Retinal diseaseNight blindness (congenital stationary night blindness)Fundus albipunctatusProgressive macular degenerationMacular atrophy
05

Safety considerations

Potential accumulation of retinyl esters and other intermediates in RDH5 deficiencyDelayed dark adaptation and potential progressive vision loss in disease contexts
06

Biomarkers

Genetic testing for RDH5 mutations (for diagnosing fundus albipunctatus and related retinopathies)

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