Aliases for RDH12 Gene
External Ids for RDH12 Gene
Previous GeneCards Identifiers 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 13 and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]
GeneCards Summary for RDH12 Gene
RDH12 (Retinol Dehydrogenase 12) is a Protein Coding gene. Diseases associated with RDH12 include Leber Congenital Amaurosis 13 and Retinitis Pigmentosa. Among its related pathways are Drug metabolism - cytochrome P450 and Vitamin A and Carotenoid Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and retinol dehydrogenase activity. An important paralog of this gene is RDH11.
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.