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Schema
>
FailedReaction
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Entries
Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL
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authored
[InstanceEdit:5602968] Jassal, Bijay, 2014年06月25日
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年06月25日
crossReference
[DatabaseIdentifier:11945003] 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年06月25日
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年03月08日
name
Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL
normalReaction
[Reaction:R-HSA-192065] CYP7B1 7-hydroxylates 25OH-CHOL
releaseDate
2014年12月11日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:5634119] Nakaki, Toshio, 2014年11月03日
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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