title: Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states.
abstract: The cytochrome P450 (CYP) 4 family of enzymes contains several recently identified membersthat are referred to as “orphan P450s” because their endogenous substrates are unknown.Human CYP4V2 and CYP4F22 are two such orphan P450s that are strongly linked to ocular andskin disease, respectively. Genetic analyses have identified a wide spectrum of mutations in the CYP4V2gene from patients suffering from Bietti’s crystalline corneoretinal dystrophy, and mutations in theCYP4F22 gene have been linked to lamellar ichthyosis. The strong gene–disease associations provideunique opportunities for elucidating the substrate specificity of these orphan P450s and unraveling thebiochemical pathways that may be impacted in patients with CYP4V2 and CYP4F22 functional deficits.
authors.affiliation: Department of Pharmaceutics, University of Washington, Seattle, WA 98195, USA. edkelly@u.washington.edu
authors.forename: Edward J
authors.initials: EJ
authors.lastname: Kelly
authors.forename: Mariko
authors.initials: M
authors.lastname: Nakano
authors.forename: Priyanka
authors.initials: P
authors.lastname: Rohatgi
authors.forename: Vladimir
authors.initials: V
authors.lastname: Yarov-Yarovoy
authors.forename: Allan E
authors.initials: AE
authors.lastname: Rettie
mesh_terms: D000818:Animals; D003317:Corneal Dystrophies, Hereditary / Q000201:enzymology / Q000209:etiology / Q000235:genetics / Q000378:metabolism; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics / Q000378:metabolism*; D000072470:Cytochrome P450 Family 4; D005227:Fatty Acids / Q000378:metabolism; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000201:enzymology* / Q000235:genetics / Q000378:metabolism; D012164:Retinal Diseases / Q000201:enzymology / Q000209:etiology / Q000235:genetics / Q000378:metabolism; D013379:Substrate Specificity
chemical_list: D005227:Fatty Acids; D003577:Cytochrome P-450 Enzyme System; C559989:CYP4F22 protein, human; C505357:CYP4V2 protein, human; D000072470:Cytochrome P450 Family 4