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Target intelligence / Profile preview
Retinol dehydrogenase 8 (RDH8)
- Target
- RDH8
- Molecular classification
- Enzyme, Short chain dehydrogenase/reductase family
01
Overview
Retinol dehydrogenase 8 (RDH8) is a member of the short chain dehydrogenase/reductase family and is an enzyme localized in the outer segments of photoreceptor cells in the retina. RDH8 catalyzes the reduction of all-trans-retinal to all-trans-retinol in the presence of NADPH, a reaction that is essential for the regeneration of rhodopsin and the continuation of the visual cycle. This enzymatic step is rate-limiting and crucial for visual pigment regeneration following exposure to light. Mutations in RDH8 have been associated with retinal diseases such as Leber congenital amaurosis and may contribute to other retinopathies[1][2][5].
- Other names
- PRRDHSDR28C2Photoreceptor outer segment all-trans retinol dehydrogenaseShort chain dehydrogenase/reductase family 28C member 2Retinol dehydrogenase 8 (all-trans)
02
Mechanism of action
Catalyzes reduction of all-trans-retinal to all-trans-retinol, rate-limiting for the visual (retinoid) cycle
03
Biological functions
Visual cycleRhodopsin regenerationReduction of all-trans-retinal to all-trans-retinolOxidoreductase activity
04
Disease associations
Retinal degenerationLeber congenital amaurosisMyopiaPotential role in Stargardt disease (STGD5)
05
Safety considerations
Disruption leads to impaired visual cycle and photoreceptor degeneration
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