Literature associating RDH12 and Leber congenital amaurosis
RDH12 [ENSP00000449079]
Retinol dehydrogenase 12; Retinoids dehydrogenase/reductase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans- retinal. Shows very weak activity towards 13-cis-retinol . Also exhibits activity, albeit with lower affinity than for retinaldehydes, towards lipid peroxidation products (C9 aldehydes) such as 4-hydroxynonenal and trans-2-nonenal . May play an important function in photoreceptor cells to detoxify 4-hydroxynonenal and potentially other toxic aldehyde products resulting from lipid peroxidation . Has no dehydrogenase activity towards steroids ; Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Synonyms: RDH12, RDH12p, hRDH12, A0A0S2Z613, Q96NR8 ...