DISEASES

Disease-gene associations mined from literature

Literature associating RDH12 and Leber congenital amaurosis

RDH12 [ENSP00000449079]

Short chain dehydrogenase/reductase family 7C member 2; 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. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments.

Synonyms:  RDH12,  RDH12p,  hRDH12,  Q96NR8,  Q96NR8p ...

Linkouts:  STRING  Pharos  UniProt