Disease-gene associations mined from literature

Literature associating RDH8 and Bothnia retinal dystrophy

RDH8 [ENSP00000466058]

Photoreceptor outer segment all-trans retinol dehydrogenase; Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinal to all-trans-retinol. May play a role in the regeneration of visual pigment at high light intensity (By similarity); Belongs to the short-chain dehydrogenases/reductases (SDR) family.

Synonyms:  RDH8,  RDH8p,  hRDH8,  K7ELF7,  Q9NYR8 ...

Linkouts:  STRING  Pharos  UniProt