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This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases 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 gene.
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蛋白别名: 11-cis RDH; 11-cis retinol dehydrogenase; 11-cis RoDH; 9-cis retinol dehydrogenase; 9-cis-retinol dehydrogenase; 9-cis-retinol specific dehydrogenase; 9cRDH; Cis-retinol dehydrogenase; FLJ39337; FLJ97089; rdh5; retinol dehydrogenase 1; Retinol dehydrogenase 5; retinol dehydrogenase 5 (11-cis and 9-cis); retinol dehydrogenase 5 (11-cis/9-cis); retinol dehydrogenase type 5; Short chain dehydrogenase/reductase family 9C member 5; short chain dehydrogenase/reductase family 9C, member 5
基因别名: 9-cis; 9cRDH; AI987873; cRDH; HSD17B9; rdh; RDH1; RDH4; RDH5; SDR9C5
UniProt ID: (Human) Q92781, (Mouse) O55240
Entrez Gene ID: (Human) 5959, (Mouse) 19682, (Rat) 366791