Defective CYP4F22 does not 20-hydroxylate TrXA3

Stable Identifier
R-HSA-5602272
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol
ReviewStatus
5/5
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Defective CYP4F22 does not 20-hydroxylate TrXA3
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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

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

Hum Mol Genet 2006
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
Participants
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Catalyst Activity

monooxygenase activity of CYP4F22 mutants [endoplasmic reticulum membrane]

Physical Entity
CYP4F22 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Activity
monooxygenase activity (GO:0004497)
Normal reaction
CYP4F22 20-hydroxylates TrXA3 (Homo sapiens)
Functional status

Loss of function of CYP4F22 mutants [endoplasmic reticulum membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
autosomal recessive congenital ichthyosis DOID:0060655 lamellar ichthyosis, Ichthyosiform erythroderma, Alligator skin, nonbullous congenital ichthyosiform erythroderma, Congenital non bullous ichthyosiform erythroderma
Cross References
Mondo
Authored
Jassal, B  (2014-06-23)
Reviewed
Nakaki, T  (2014-11-03)
Created
Jassal, B  (2014-06-23)
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