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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.

SUBMITTER: Kelly EJ 

PROVIDER: S-EPMC3109859 | biostudies-literature | 2011 Apr

REPOSITORIES: biostudies-literature

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

Kelly Edward J EJ   Nakano Mariko M   Rohatgi Priyanka P   Yarov-Yarovoy Vladimir V   Rettie Allan E AE  

Molecular interventions 20110401 2


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 t  ...[more]

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