DISEASES

Disease-gene associations mined from literature

Literature associating RDH5 and cone-rod dystrophy 8

RDH5 [ENSP00000257895]

Short chain dehydrogenase/reductase family 9C member 5; Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of 11-cis retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and 13-cis-retinol, but not all- trans-retinol. Active in the presence of NAD as cofactor but not in the presence of NADP; Short chain dehydrogenase/reductase superfamily

Synonyms:  RDH5,  RDH5p,  hRDH5,  A0A024RB18,  B4DDS2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM