EC Number   |
General Information |
Reference |
|---|
   3.1.1.64 | evolution |
it is likely that the two novel homologues of RPE65 (13cIMH and RPE65c, EC 3.1.1.90 and EC 3.1.1.64, respectively) are generated through gene duplication after the separation of fish RPE65 from the ancestral RPE65, because they exhibit an extremely high level of sequence identity (97%) and are located in the same chromosome, but on a different chromosome from RPE65 |
729213 |
| 3.1.1.64 | evolution |
the enzyme belongs to the RPE65/BCMO Superfamily. The crucial transition from the typical carotenoid double bond cleavage functionality to the isomerohydrolase functionality (RPE65), coupled with the origin of lecithin:retinol acyltransferase, occurred subsequent to divergence of the more primitive chordates (tunicates, etc.) in the last common ancestor of the jawless and jawed vertebrates |
730714 |
| 3.1.1.64 | malfunction |
outer segment discs of rod photoreceptors in Rpe65-deficient mice are disorganized, rod function is abolished although cone function remains. Rpe65-deficient mice lack rhodopsin, but not opsin apoprotein |
716308 |
| 3.1.1.64 | malfunction |
RPE65 mutations are associated with inherited retinal dystrophies |
679833 |
| 3.1.1.64 | metabolism |
the enzyme catalyzes the key reaction in the retinoid visual cycle |
730062 |
| 3.1.1.64 | more |
key residues determining the isomerization product specificity of the enzyme are Tyr58, Phe103, and Leu133 |
729213 |
| 3.1.1.64 | physiological function |
13cIMH may play a key role in the modulation of neuronal functions in the brain |
714991 |
| 3.1.1.64 | physiological function |
deletion of RPE65 partially suppresses cone dark adaptation. Transgenic mice expressing human RPE65 in the cones reveal no morphological or functional changes between control (RPE65-deficient) and transgenic cones, with only a slight delay in dark adaptation, possibly caused by the buffering of retinoids by RPE65 |
752236 |
| 3.1.1.64 | physiological function |
isoform RPE65c is the alternative isomerohydrolase in the intra-retinal visual cycle, providing 11-cis retinal to cone photoreceptors in cone-dominant species |
714986 |
| 3.1.1.64 | physiological function |
large amounts of esters accumulate in Rpe65-/- mice. Retinyl ester levels in Sv/129 wild type mice that are dark adapted for various intervals are similar to those in mice raised in cyclic light. In C57BL/6 mice, which contain less Rpe65 protein, dark adaptation is accompanied by an increase in ester levels compared to cyclic light controls. Retinyl ester levels are much higher in Rpe65-/- mice compared to wild type and keep increasing with age |
751807 |
