Disease-gene associations mined from literature

Literature associating RDH14 and Bothnia retinal dystrophy

RDH14 [ENSP00000370648]

Short chain dehydrogenase/reductase family 7C member 4; Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. No steroid dehydrogenase activity detected; Short chain dehydrogenase/reductase superfamily

Synonyms:  RDH14,  RDH14p,  hRDH14,  Q53RX3,  Q9HBH5 ...

Linkouts:  STRING  Pharos  UniProt