Reactome | CYP27A1 does not 27-hydroxylate 5bCHOL3a,7a,12a-triol

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CYP27A1 does not 27-hydroxylate 5bCHOL3a,7a,12a-triol Show undefined attributes

authored	[InstanceEdit:5602197] Jassal, Bijay, 2014-06-20
catalystActivity	[CatalystActivity:9631794] steroid hydroxylase activity of CYP27A1 mutants [mitochondrial matrix]
category	transition
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:5602197] Jassal, Bijay, 2014-06-20
dbId	5602170
disease	[Disease:5602095] cerebrotendinous xanthomatosis
displayName	CYP27A1 does not 27-hydroxylate 5bCHOL3a,7a,12a-triol
edited	[InstanceEdit:5602197] Jassal, Bijay, 2014-06-20
entityFunctionalStatus	[EntityFunctionalStatus:5602127] loss_of_function of CYP27A1 mutants [mitochondrial matrix]
eventOf	[Pathway:R-HSA-5578996] Defective CYP27A1 causes CTX - Homo sapiens
input	[SimpleEntity:R-ALL-192078] 5bCHOL3a,7a,12a-triol [mitochondrial matrix] [SimpleEntity:R-ALL-113529] H+ [mitochondrial matrix] [SimpleEntity:R-ALL-113600] NADPH [mitochondrial matrix] [SimpleEntity:R-ALL-113533] O2 [mitochondrial matrix]
isChimeric	false
isInDisease	true
isInferred	false
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:5602119] Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype [LiteratureReference:5602107] Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX) [LiteratureReference:5602146] Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	CYP27A1 does not 27-hydroxylate 5bCHOL3a,7a,12a-triol
normalReaction	[Reaction:R-HSA-191999] CYP27A1 27-hydroxylates 5bCHOL3a,7a,12a-triol
releaseDate	2014-12-11
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5634119] Nakaki, Toshio, 2014-11-03
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5602170
summation	[Summation:5602200] CYP27A1, a mitochondrial matrix sterol hydroxylase, catalyse...
systematicName	CYP27A1 mutants do not hydroxylate cholestane-triols

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[Pathway:R-HSA-5578996] Defective CYP27A1 causes CTX

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