Reactome | Defective CYP24A1 causes HCAI

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authored	[InstanceEdit:5579003] Jassal, Bijay, 2014-06-06
created	[InstanceEdit:5579003] Jassal, Bijay, 2014-06-06
crossReference	[DatabaseIdentifier:12020806] Mondo:0001566
dbId	5579010
disease	[Disease:5602006] hypercalcemia
displayName	Defective CYP24A1 causes HCAI
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-5602004] Defective CYP24A1 does not 24-hydroxylate CALTOL - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:5601999] Mutations in CYP24A1 and idiopathic infantile hypercalcemia
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective CYP24A1 causes HCAI Defective CYP24A1 causes Hypercalcemia, infantile (HCAI)
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-5579010
summation	[Summation:5601993] Catabolic inactivation of the active, hormonal form of vitam...
updateTrackers	[UpdateTracker:9777831] Update Tracker - [Pathway:5579010] Defective CYP24A1 causes HCAI - v68:[updateContainedRLE] [UpdateTracker:9785518] Update Tracker - [Pathway:5579010] Defective CYP24A1 causes HCAI - v52:[removeHasEvent]

(updatedInstance)	[UpdateTracker:9777831] Update Tracker - [Pathway:5579010] Defective CYP24A1 causes HCAI - v68:[updateContainedRLE] [UpdateTracker:9785518] Update Tracker - [Pathway:5579010] Defective CYP24A1 causes HCAI - v52:[removeHasEvent]
(hasEvent)	[Pathway:R-HSA-5579029] Metabolic disorders of biological oxidation enzymes

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