11-cis-retinol dehydrogenase (RDH5) and RDH11 catalyse the final step in the biosynthesis of 11-cis-retinal (11cRAL), the universal chromophore of visual pigments, whereas RDH8, RDH12, and DHRS3 (retSDR1) catalyze the conversion of all-trans-retinal (atRAL) into all-trans-retinol (atROL) to maintain the cycle (Parker & Crouch 2010). Defects in the RDH5 gene can cause fundus albipunctatus (RPA; MIM:136880), a rare form of stationary night blindness characterised by a delay in the regeneration of cone and rod photopigments (Yamamoto et al. 1999).
Simon, A, Dryja, TP, Harris, E, Yamamoto, H, Berson, EL, Eriksson, U
Parker, RO, Crouch, RK
NAD-retinol dehydrogenase activity of RDH5(24-318), RDH11 [endoplasmic reticulum membrane]
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