Reactome | Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL

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Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL Show undefined attributes

authored	[InstanceEdit:5602968] Jassal, Bijay, 2014-06-25
catalystActivity	[CatalystActivity:9631820] oxysterol 7-alpha-hydroxylase activity of CYP7B1 mutants [endoplasmic reticulum membrane]
category	transition
compartment	[Compartment:70101] cytosol [Compartment:12045] endoplasmic reticulum membrane
created	[InstanceEdit:5602968] Jassal, Bijay, 2014-06-25
crossReference	[DatabaseIdentifier:12020860] Mondo:0019064
dbId	5602885
disease	[Disease:5602229] hereditary spastic paraplegia
displayName	Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL
edited	[InstanceEdit:5602968] Jassal, Bijay, 2014-06-25
entityFunctionalStatus	[EntityFunctionalStatus:5602824] loss_of_function of CYP7B1 mutants [endoplasmic reticulum membrane]
eventOf	[Pathway:R-HSA-5579013] Defective CYP7B1 causes SPG5A and CBAS3 - Homo sapiens
input	[SimpleEntity:R-ALL-192148] 25OH-CHOL [cytosol] [SimpleEntity:R-ALL-70106] H+ [cytosol] [SimpleEntity:R-ALL-29364] NADPH [cytosol] [SimpleEntity:R-ALL-29368] O2 [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:193828] Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease [LiteratureReference:5602922] Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration [LiteratureReference:5602945] Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia [LiteratureReference:5602916] CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5 [LiteratureReference:5602854] Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL
normalReaction	[Reaction:R-HSA-192065] CYP7B1 7-hydroxylates 25OH-CHOL
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-5602885
summation	[Summation:5602958] 25-hydroxycholesterol 7-alpha-hydroxylase (CYP7B1) normally ...
systematicName	CYP7B1 mutants do not hydroxylate 25OH-CHOL
updateTrackers	[UpdateTracker:9778401] Update Tracker - [FailedReaction:5602885] Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778401] Update Tracker - [FailedReaction:5602885] Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-5579013] Defective CYP7B1 causes SPG5A and CBAS3

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