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RDH1 / RDH5 is 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.
Gene Name: | retinol dehydrogenase 5 (11-cis/9-cis) |
Synonyms: | RDH5, 11-cis retinol dehydrogenase, 9cRDH, 11-cis RDH, Retinol dehydrogenase 1, SDR9C5, HSD17B9, RDH1 |
Target Sequences: | NM_002905 NP_002896.2 Q92781 |
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