Defective CYP4F22 causes ARCI5

Stable Identifier
R-HSA-5579005
Type
Pathway
Species
Homo sapiens
Synonyms
Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5)
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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
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
Participants
Participates
Disease
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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