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Entries
Defective CYP7B1 causes SPG5A and CBAS3
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authored
[InstanceEdit:5579003] Jassal, Bijay, 2014年06月06日
created
[InstanceEdit:5579003] Jassal, Bijay, 2014年06月06日
crossReference
[DatabaseIdentifier:11945003] Mondo:0019064
dbId
5579013
disease
[Disease:5602229] hereditary spastic paraplegia
displayName
Defective CYP7B1 causes SPG5A and CBAS3
edited
[InstanceEdit:5579003] Jassal, Bijay, 2014年06月06日
eventOf
[Pathway:R-HSA-5579029] Metabolic disorders of biological oxidation enzymes - Homo sapiens
hasDiagram
true
hasEHLD
false
hasEvent
[FailedReaction:R-HSA-5602885] Defective CYP7B1 does not 7-hydroxylate 25OH-CHOL - Homo sapiens
isInDisease
true
isInferred
false
lastUpdatedDate
2019年03月25日
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
maxDepth
2
modified
[InstanceEdit:9847082] Weiser, Joel, 2023年10月12日
name
Defective CYP7B1 causes SPG5A and CBAS3
Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3)
normalPathway
[Pathway:R-HSA-211945] Phase I - Functionalization of compounds
releaseDate
2014年12月11日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:5634119] Nakaki, Toshio, 2014年11月03日
schemaClass
Pathway
species
[Species:48887] Homo sapiens
stId
R-HSA-5579013
summation
[Summation:5602872] Bile acids are synthesised from cholesterol via two pathways...
updateTrackers
[UpdateTracker:9778032] Update Tracker - [Pathway:5579013] Defective CYP7B1 causes SPG5A and CBAS3 - v68:[updateContainedRLE]
[UpdateTracker:9785305] Update Tracker - [Pathway:5579013] Defective CYP7B1 causes SPG5A and CBAS3 - v52:[removeHasEvent]
Referrals
(updatedInstance)
[UpdateTracker:9778032] Update Tracker - [Pathway:5579013] Defective CYP7B1 causes SPG5A and CBAS3 - v68:[updateContainedRLE]
[UpdateTracker:9785305] Update Tracker - [Pathway:5579013] Defective CYP7B1 causes SPG5A and CBAS3 - v52:[removeHasEvent]
(hasEvent)
[Pathway:R-HSA-5579029] Metabolic disorders of biological oxidation enzymes
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