Aliases for RDH5 Gene
External Ids for RDH5 Gene
Previous HGNC Symbols for RDH5 Gene
Previous GeneCards Identifiers for RDH5 Gene
This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]
GeneCards Summary for RDH5 Gene
RDH5 (Retinol Dehydrogenase 5) is a Protein Coding gene. Diseases associated with RDH5 include Fundus Albipunctatus and Rdh5-Related Fundus Albipunctatus. Among its related pathways are the visual cycle I (vertebrates) and Metabolism of fat-soluble vitamins. GO annotations related to this gene include oxidoreductase activity and retinol dehydrogenase activity. An important paralog of this gene is RDH16.
UniProtKB/Swiss-Prot for RDH5 Gene
Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and 13-cis-retinol, but not all-trans-retinol. Active in the presence of NAD as cofactor but not in the presence of NADP.