Literature associating RDH12 and Leber congenital amaurosis
Short chain dehydrogenase/reductase family 7C member 2; Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments.
Synonyms: RDH12, RDH12p, hRDH12, Q96NR8, Q96NR8p ...