Aliases for RDH12 Gene
- Retinol Dehydrogenase 12 (All-Trans/9-Cis/11-Cis) 2 3
- Short Chain Dehydrogenase/Reductase Family 7C Member 2 3 4
- All-Trans And 9-Cis Retinol Dehydrogenase 3 4
- SDR7C2 3 4
- LCA13 3 6
- Short Chain Dehydrogenase/Reductase Family 7C, Member 2 3
- Retinol Dehydrogenase 12 (All-Trans And 9-Cis) 2
- Short Chain Dehydrogenase/Reductase Family 7C 2
- Retinol Dehydrogenase 12, All-Trans And 9-Cis 3
External Ids for RDH12 Gene
The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 3 (LCA3). [provided by RefSeq, Jul 2008]
GeneCards Summary for RDH12 Gene
RDH12 (Retinol Dehydrogenase 12 (All-Trans/9-Cis/11-Cis)) is a Protein Coding gene. Diseases associated with RDH12 include leber congenital amaurosis 13 and rdh12-related leber congenital amaurosis. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include retinol dehydrogenase activity. An important paralog of this gene is DHRS12.
UniProtKB/Swiss-Prot for RDH12 Gene
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.