| Protein Name | retinol dehydrogenase 5 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 5959 |
| Gene Symbol | RDH5 |
| UniProt | Q92781 (RDH5_HUMAN), A0A024RB18 (A0A024RB18_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
36
Total Number of Articles : 30 |
Description |
retinol dehydrogenase 5 |
| 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. 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] |
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| Properties | |