Literature associating RDH5 and Bothnia retinal dystrophy
Short chain dehydrogenase/reductase family 9C member 5; 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; Short chain dehydrogenase/reductase superfamily
Synonyms: RDH5, RDH5p, hRDH5, A0A024RB18, B4DDS2 ...