Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states

Edward J. Kelly, Mariko Nakano, Priyanka Rohatgi, Vladimir Yarov-Yarovoy, Allan E. Rettie

Research output: Contribution to journalArticlepeer-review

33 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)124-132
Number of pages9
JournalMolecular Interventions
Issue number2
StatePublished - Apr 2011
Externally publishedYes

ASJC Scopus subject areas

  • Molecular Medicine


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