The cytochrome P450 (CYP) 4 family of enzymes contains several recently identified members that 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 and skin disease, respectively. Genetic analyses have identified a wide spectrum of mutations in the CYP4V2 gene from patients suffering from Bietti's crystalline corneoretinal dystrophy, and mutations in the CYP4F22 gene have been linked to lamellar ichthyosis. The strong gene-disease associations provide unique opportunities for elucidating the substrate specificity of these orphan P450s and unraveling the biochemical pathways that may be impacted in patients with CYP4V2 and CYP4F22 functional deficits.
ASJC Scopus subject areas
- Molecular Medicine