Biology:Retinol isomerase
| retinol isomerase | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||
| EC number | 5.2.1.7 | ||||||||
| CAS number | 109740-80-9 | ||||||||
| Databases | |||||||||
| IntEnz | IntEnz view | ||||||||
| BRENDA | BRENDA entry | ||||||||
| ExPASy | NiceZyme view | ||||||||
| KEGG | KEGG entry | ||||||||
| MetaCyc | metabolic pathway | ||||||||
| PRIAM | profile | ||||||||
| PDB structures | RCSB PDB PDBe PDBsum | ||||||||
| Gene Ontology | AmiGO / QuickGO | ||||||||
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In enzymology, a retinol isomerase (EC 5.2.1.7) is an enzyme that catalyzes the chemical reaction
- all-trans-retinol [math]\displaystyle{ \rightleftharpoons }[/math] 11-cis-retinol
Hence, 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.
References
- "Isomerization of all-trans-retinoids to 11-cis-retinoids in vitro". Proc. Natl. Acad. Sci. U.S.A. 84 (7): 1849–53. 1987. doi:10.1073/pnas.84.7.1849. PMID 3494246.
- "The visual cycle operates via an isomerase acting on all-trans retinol in the pigment epithelium". Science 236 (4809): 1678–80. 1987. doi:10.1126/science.3603006. PMID 3603006.
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