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Entries
Defective CYP26B1 causes RHFCA
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authored
[InstanceEdit:5579003] Jassal, Bijay, 2014年06月06日
created
[InstanceEdit:5579003] Jassal, Bijay, 2014年06月06日
crossReference
[DatabaseIdentifier:11944975] Mondo:0015469
dbId
5579015
disease
[Disease:2011847] craniosynostosis
displayName
Defective CYP26B1 causes RHFCA
edited
[InstanceEdit:5579003] Jassal, Bijay, 2014年06月06日
eventOf
[Pathway:R-HSA-5579029] Metabolic disorders of biological oxidation enzymes - Homo sapiens
hasDiagram
true
hasEHLD
false
hasEvent
[FailedReaction:R-HSA-5602063] Defective CYP26B1 does not 4-hydroxylate atRA - Homo sapiens
isInDisease
true
isInferred
false
lastUpdatedDate
2019年03月25日
literatureReference
[LiteratureReference:5362575] Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid
[LiteratureReference:215645] Identification of the human cytochrome P450, P450RAI-2, which is predominantly expressed in the adult cerebellum and is responsible for all-trans-retinoic acid metabolism
maxDepth
2
modified
[InstanceEdit:9847082] Weiser, Joel, 2023年10月12日
name
Defective CYP26B1 causes RHFCA
Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA)
normalPathway
[Pathway:R-HSA-211945] Phase I - Functionalization of compounds
releaseDate
2014年12月11日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:5634119] Nakaki, Toshio, 2014年11月03日
schemaClass
Pathway
species
[Species:48887] Homo sapiens
stId
R-HSA-5579015
summation
[Summation:5602051] Retinoic acid (RA) is a biologically active analogue of vita...
updateTrackers
[UpdateTracker:9785147] Update Tracker - [Pathway:5579015] Defective CYP26B1 causes RHFCA - v52:[removeHasEvent]
[UpdateTracker:9778094] Update Tracker - [Pathway:5579015] Defective CYP26B1 causes RHFCA - v68:[updateContainedRLE]
Referrals
(updatedInstance)
[UpdateTracker:9785147] Update Tracker - [Pathway:5579015] Defective CYP26B1 causes RHFCA - v52:[removeHasEvent]
[UpdateTracker:9778094] Update Tracker - [Pathway:5579015] Defective CYP26B1 causes RHFCA - v68:[updateContainedRLE]
(hasEvent)
[Pathway:R-HSA-5579029] Metabolic disorders of biological oxidation enzymes
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