Entrez gene ID | | 5959 |
Official gene symbol | | RDH5 |
Full name | | retinol dehydrogenase 5 (11-cis/9-cis) |
Aliases | | ,FLJ39337,FLJ97089,HSD17B9,RDH1,SDR9C5, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 12 Locus: 12q13-q14 |
Gene position | | 56114151 - 56118526 Map Viewer |
Gene orientation | | plus |
Gene size | | 4376 bp |
Gene sequence |
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OMIM ID | | 601617 |