EC number 5.2.1.7 IntEnz IntEnz view ExPASy NiceZyme view | CAS number 109740-80-9 BRENDA BRENDA entry KEGG KEGG entry | |
In enzymology, a retinol isomerase (EC 5.2.1.7) is an enzyme that catalyzes the chemical reaction
all-trans-retinolHence, this enzyme has one substrate, all-trans-retinol, and one product, 11-cis-retinol. These enzymes are alternatively referred to as retinoid isomerases.
This enzyme belongs to the family of isomerases, specifically cis-trans isomerases. The systematic name of this enzyme class is all-trans-retinol 11-cis-trans-isomerase. This enzyme is also called all-trans-retinol isomerase. This enzyme participates in retinol metabolism.
In vertebrates, RPE65 is the active retinol isomerase in the visual cycle. A lack of RPE65 function results in congenital blindness in children (specifically Leber congenital amaurosis). Emixustat, a partial inhibitor of RPE65, is currently in FDA clinical trials for the treatment of age-related macular degeneration.