Defective CYP4F22 does not 20-hydroxylate TrXA3

Stable Identifier
Reaction [transition]
Homo sapiens
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Cytochrome P450 4F22 (CYP4F22) is thought to 20-hydroxylate trioxilin A3 (TrXA3), an intermediary metabolite from the 12(R)-lipoxygenase pathway. This pathway is implicated in proliferative skin diseases. The major products of arachidonic acid in keratinocytes are 12- and 15-HETE which undergo biotransformation to products involved in skin hydration. CYP4F22 mutations can lead to autosomal recessive congenital ichthyosis (ARCI). Mutations causing ARCI5 include H435Y, H436D, R243H and W521* (Lefevre et al. 2006, Lugassy et al. 2008).

Literature References
PubMed ID Title Journal Year
16436457 Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3

Tadini, G, Lefevre, C, Ferrand, V, Prud'homme, JF, Lathrop, M, Fischer, J, Megarbane, A, Bouadjar, B

Hum Mol Genet 2006
18034255 Rapid detection of homozygous mutations in congenital recessive ichthyosis

Khamaysi, Z, Bergman, R, Hennies, HC, Sprecher, E, Indelman, M, Lugassy, J

Arch. Dermatol. Res. 2008
Catalyst Activity

monooxygenase activity of CYP4F22 mutants [endoplasmic reticulum membrane]

Normal reaction
Functional status

Loss of function of CYP4F22 mutants [endoplasmic reticulum membrane]

Name Identifier Synonyms
congenital ichthyosiform erythroderma DOID:1699 lamellar ichthyosis, Ichthyosiform erythroderma, Alligator skin, nonbullous congenital ichthyosiform erythroderma, Congenital non bullous ichthyosiform erythroderma
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