Reactome | Defective CYP27A1 causes CTX

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Defective CYP27A1 causes CTX Show undefined attributes

authored	[InstanceEdit:5579003] Jassal, Bijay, 2014-06-06
created	[InstanceEdit:5579003] Jassal, Bijay, 2014-06-06
crossReference	[DatabaseIdentifier:12020866] Mondo:0008948
dbId	5578996
disease	[Disease:5602095] cerebrotendinous xanthomatosis
displayName	Defective CYP27A1 causes CTX
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-5602170] CYP27A1 does not 27-hydroxylate 5bCHOL3a,7a,12a-triol - Homo sapiens [FailedReaction:R-HSA-9035960] Defective CYP27A1 does not 27-hydroxylate 5?-CHOL3?,7?,24(s)-triol - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:193375] Activities of recombinant human cytochrome P450c27 (CYP27) which produce intermediates of alternative bile acid biosynthetic pathways [LiteratureReference:192197] Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis. [LiteratureReference:5602132] Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective CYP27A1 causes CTX Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX)
normalPathway	[Pathway:R-HSA-194068] Bile acid and bile salt metabolism
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-5578996
summation	[Summation:5602122] CYP27A1, a mitochondrial matrix sterol hydroxylase, catalyse...
updateTrackers	[UpdateTracker:9778091] Update Tracker - [Pathway:5578996] Defective CYP27A1 causes CTX - v68:[updateContainedRLE] [UpdateTracker:9785475] Update Tracker - [Pathway:5578996] Defective CYP27A1 causes CTX - v52:[removeHasEvent] [UpdateTracker:9779750] Update Tracker - [Pathway:5578996] Defective CYP27A1 causes CTX - v64:[addHasEvent, updateContainedRLE]

Referrals

(updatedInstance)	[UpdateTracker:9778091] Update Tracker - [Pathway:5578996] Defective CYP27A1 causes CTX - v68:[updateContainedRLE] [UpdateTracker:9785475] Update Tracker - [Pathway:5578996] Defective CYP27A1 causes CTX - v52:[removeHasEvent] [UpdateTracker:9779750] Update Tracker - [Pathway:5578996] Defective CYP27A1 causes CTX - v64:[addHasEvent, updateContainedRLE]
(hasEvent)	[Pathway:R-HSA-5579029] Metabolic disorders of biological oxidation enzymes