Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5)

Stable Identifier
R-HSA-5579005
Type
Pathway
Species
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 5 (ARCI5) (Lefevre et al. 2006, Lugassy et al. 2008).

Literature References
PubMed ID Title Journal Year
18034255 Rapid detection of homozygous mutations in congenital recessive ichthyosis

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

Arch. Dermatol. Res. 2008
16436457 Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3

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

Hum Mol Genet 2006
Participants
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Disease
Name Identifier Synonyms
congenital ichthyosiform erythroderma 1699 lamellar ichthyosis, Ichthyosiform erythroderma, Alligator skin, nonbullous congenital ichthyosiform erythroderma, Congenital non bullous ichthyosiform erythroderma
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