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rdh1

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Official Full Name
retinol dehydrogenase 5 (11-cis/9-cis)
Background
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.
Synonyms
RDH5; retinol dehydrogenase 5 (11-cis/9-cis); RDH1, retinol dehydrogenase 5 (11 cis and 9 cis); 11-cis retinol dehydrogenase; HSD17B9; SDR9C5; short chain dehydrogenase/reductase family 9C; member 5; 11 cis RDH; 11 cis retinol dehydrogenase; 9 cis retinol specific dehydrogenase; FLJ39337; FLJ97089; RDH 5; RDH1; Retinol dehydrogenase 1; Retinol dehydrogenase 5 (11 cis/9 cis); Retinol dehydrogenase 5; Short chain dehydrogenase/reductase family 9C member 5; 11-cis RDH; OTTHUMP00000242975; OTTHUMP00000242976; OTTHUMP00000242988; 9-cis-retinol specific dehydrogenase; retinol dehydrogenase 5 (11-cis and 9-cis); short chain dehydrogenase/reductase family 9C, member 5; im:6901729; si:dkey-102c8.5