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MGP006603

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:612712]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269|PubMed:15258582, ECO:0000269|PubMed:15322982}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseRetinitis pigmentosa 53 (RP53) [MIM:612712]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:19140180, ECO:0000269|PubMed:19956407}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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. {ECO:0000269|PubMed:12226107}.
InteractionP0CG48:UBC; NbExp=2; IntAct=EBI-3916363, EBI-3390054;
SimilarityBelongs to the short-chain dehydrogenases/reductases (SDR) family. {ECO:0000305}.
Tissue SpecificityWidely expressed, mostly in eye, kidney, brain, skeletal muscle and stomach.
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