RDH5 : retinol dehydrogenase 5
Description
The RDH5 gene provides instructions for making an enzyme called retinol dehydrogenase 5. This enzyme plays a crucial role in the visual cycle, the biochemical pathway responsible for converting light signals into nerve impulses in the retina. Retinol dehydrogenase 5 catalyzes the oxidation of all-trans-retinol to all-trans-retinal, a key step in the regeneration of the visual pigment rhodopsin. This process is essential for proper vision, especially in dim light.
Associated Diseases
- Retinitis Pigmentosa (RP): Mutations in RDH5 are a known cause of autosomal recessive retinitis pigmentosa, a group of inherited eye diseases that damage the retina‘s light-sensitive cells. RP can lead to progressive vision loss and blindness.
- Congenital Stationary Night Blindness (CSNB): Some RDH5 mutations are associated with CSNB, a condition characterized by difficulty seeing in low light conditions.
- Other Eye Diseases: RDH5 mutations have also been implicated in other eye diseases, including macular degeneration and optic atrophy.
Did you know?
The RDH5 gene is highly expressed in the retina, specifically in the photoreceptor cells responsible for light detection. This high expression level reflects the critical role of retinol dehydrogenase 5 in vision.
