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 (11-Cis/9-Cis)) is a Protein Coding gene. Diseases associated with RDH5 include rdh5-related fundus albipunctatus and fundus albipunctatus. Among its related pathways are Signaling by GPCR and Visual Cycle in Retinal Rods. GO annotations related to this gene include oxidoreductase activity and retinol dehydrogenase activity. An important paralog of this gene is HSD11B2.
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.