Disease-gene associations mined from literature

Literature associating RDH5 and retinitis pigmentosa 14

RDH5 [ENSP00000257895]

Retinol dehydrogenase 5; Catalyzes the oxidation of cis-isomers of retinol, including 11-cis-, 9-cis-, and 13-cis-retinol in an NAD-dependent manner . Has no activity towards all-trans retinal (By similarity). Plays a significant role in 11-cis retinol oxidation in the retinal pigment epithelium cells (RPE). Also recognizes steroids (androsterone, androstanediol) as its substrates . ECO:0000269|PubMed:11675386, ECO:0000269|PubMed:29541409,; Belongs to the short-chain dehydrogenases/reductases (SDR) family.

Synonyms:  RDH5,  RDH5p,  hRDH5,  A0A024RB18,  F8VUB9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM