LMPD Database

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LMP000521

UniProt Annotations

Entry Information
Gene Nameretinol dehydrogenase 12 (all-trans/9-cis/11-cis)
Protein EntryRDH12_HUMAN
UniProt IDQ96NR8
SpeciesHuman
Comments
Comment typeDescription
DiseaseLeber congenital amaurosis 13 (LCA13) [MIM
DiseaseRetinitis pigmentosa 53 (RP53) [MIM
FunctionExhibits 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.
InteractionP0CG48:UBC; NbExp=2; IntAct=EBI-3916363, EBI-3390054;
SimilarityBelongs to the short-chain dehydrogenases/reductases (SDR) family.
Tissue SpecificityWidely expressed, mostly in eye, kidney, brain, skeletal muscle and stomach.