- Gene Overview
- Interaction Network
- Sequence Verification
RPE65, retinoid isomerohydrolase RPE65
-
The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital. [provided by RefSeq, Oct 2017]
-
Gene Synonyms (retinoid isomerohydrolase, BCO family, member 3, RBP-binding membrane protein, RPE65, retinoid isomerohydrolase, all-trans-retinyl-palmitate hydrolase, lutein isomerase, meso-zeaxanthin isomerase, retinal pigment epithelium specific protein 65, retinal pigment epithelium-specific 65 kDa protein, retinal pigment epithelium-specific protein 65kDa, retinitis pigmentosa 20 (autosomal recessive), retinol isomerase, BCO3, LCA2, RP20, mRPE65, p63, rd12, sRPE65,)
- NCBI Gene ID:
6121
- Species:
Homo sapiens (Human)
-
UNIPROT ID#>>Q16518
- View the NCBI Database
for this Gene »
Gene products are often involved in multiple pathways and networks within a living
cell. Learn more about other interacting partners.
retinoid isomerohydrolase RPE65 interacts with:
Paste a protein or nucleic acid sequence in the box below to confirm that it matches
this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see
how a sequence matches to an experimentally-validated ORF clone.
|