RDH5 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.
Pathway
Retinol metabolism; Visual signal transduction: Cones; Visual signal transduction: Rods; Vitamin A and carotenoid metabolism; the visual cycle;
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