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Entries
Defective CYP4F22 causes ARCI5
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authored
[InstanceEdit:5579003] Jassal, Bijay, 2014-06-06
created
[InstanceEdit:5579003] Jassal, Bijay, 2014-06-06
crossReference
[DatabaseIdentifier:12020868] Mondo:0017265
dbId
5579005
disease
[Disease:5602266] autosomal recessive congenital ichthyosis
displayName
Defective CYP4F22 causes ARCI5
edited
[InstanceEdit:5579003] Jassal, Bijay, 2014-06-06
eventOf
[Pathway:R-HSA-5579029] Metabolic disorders of biological oxidation enzymes - Homo sapiens
hasDiagram
true
hasEHLD
false
hasEvent
[FailedReaction:R-HSA-5602272] Defective CYP4F22 does not 20-hydroxylate TrXA3 - Homo sapiens
isInDisease
true
isInferred
false
lastUpdatedDate
2019-03-25
literatureReference
[LiteratureReference:216607] Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
[LiteratureReference:5602270] Rapid detection of homozygous mutations in congenital recessive ichthyosis
maxDepth
2
modified
[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name
Defective CYP4F22 causes ARCI5
Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5)
normalPathway
[Pathway:R-HSA-211945] Phase I - Functionalization of compounds
releaseDate
2014-12-11
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:5634119] Nakaki, Toshio, 2014-11-03
schemaClass
Pathway
species
[Species:48887] Homo sapiens
stId
R-HSA-5579005
summation
[Summation:5602283] Cytochrome P450 4F22 (CYP4F22) is thought to 20-hydroxylate ...
updateTrackers
[UpdateTracker:9785287] Update Tracker - [Pathway:5579005] Defective CYP4F22 causes ARCI5 - v52:[removeHasEvent]
[UpdateTracker:9782593] Update Tracker - [Pathway:5579005] Defective CYP4F22 causes ARCI5 - v59:[add_removeLiteratureReference, updateContainedRLE]
[UpdateTracker:9777847] Update Tracker - [Pathway:5579005] Defective CYP4F22 causes ARCI5 - v68:[updateContainedRLE]
Referrals
(updatedInstance)
[UpdateTracker:9785287] Update Tracker - [Pathway:5579005] Defective CYP4F22 causes ARCI5 - v52:[removeHasEvent]
[UpdateTracker:9782593] Update Tracker - [Pathway:5579005] Defective CYP4F22 causes ARCI5 - v59:[add_removeLiteratureReference, updateContainedRLE]
[UpdateTracker:9777847] Update Tracker - [Pathway:5579005] Defective CYP4F22 causes ARCI5 - v68:[updateContainedRLE]
(hasEvent)
[Pathway:R-HSA-5579029] Metabolic disorders of biological oxidation enzymes
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