DISEASES

Disease-gene associations mined from literature

Literature associating RPE65 and Leber congenital amaurosis 12

RPE65 [ENSP00000262340]

Retinal pigment epithelium-specific 65 kDa protein; Critical isomerohydrolase in the retinoid cycle involved in regeneration of 11-cis-retinal, the chromophore of rod and cone opsins. Catalyzes the cleavage and isomerization of all-trans- retinyl fatty acid esters to 11-cis-retinol which is further oxidized by 11-cis retinol dehydrogenase to 11-cis-retinal for use as visual chromophore. Essential for the production of 11-cis retinal for both rod and cone photoreceptors. Also capable of catalyzing the isomerization of lutein to meso-zeaxanthin an eye-specific carotenoid. The soluble form binds vitamin A (all-trans- retinol), making it available for LRAT processing to all-trans- retinyl ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH (isomerohydrolase) processing to all-cis-retinol. The soluble form is regenerated by transferring its palmitoyl groups onto 11-cis- retinol, a reaction catalyzed by LRAT (By similarity).

Synonyms:  RPE65,  RPE65p,  hRPE65,  C7FEP0,  Q16518 ...

Linkouts:  STRING  Pharos  UniProt  OMIM