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CYP4F22 mutants [endoplasmic reticulum membrane]
Stable Identifier
R-HSA-5602265
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective CYP4F22 causes ARCI5 (Homo sapiens)
Defective CYP4F22 does not 20-hydroxylate TrXA3 (Homo sapiens)
CYP4F22 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Participants
members
CYP4F22 H435Y [endoplasmic reticulum membrane]
(Homo sapiens)
CYP4F22 H436D [endoplasmic reticulum membrane]
(Homo sapiens)
CYP4F22 R243H [endoplasmic reticulum membrane]
(Homo sapiens)
CYP4F22 W521* [endoplasmic reticulum membrane]
(Homo sapiens)
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
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