Reactome | Defective CYP11A1 does not cleave 20a,22b-DHCHOL

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Defective CYP11A1 does not cleave 20a,22b-DHCHOL Show undefined attributes

authored	[InstanceEdit:5579090] Jassal, Bijay, 2014-06-06
category	transition
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:5580263] Jassal, Bijay, 2014-06-09
crossReference	[DatabaseIdentifier:12020858] Mondo:0013400
dbId	5580269
disease	[Disease:5580265] congenital adrenal insufficiency
displayName	Defective CYP11A1 does not cleave 20a,22b-DHCHOL
edited	[InstanceEdit:5579090] Jassal, Bijay, 2014-06-06
entityFunctionalStatus	[EntityFunctionalStatus:5580260] loss_of_function of CYP11A1 mutants:FDXR:FDX1,FDX1L (red.) [mitochondrial matrix]
eventOf	[Pathway:R-HSA-5579026] Defective CYP11A1 causes AICSR - Homo sapiens
input	[SimpleEntity:R-ALL-193086] 20a,22b-DHCHOL [mitochondrial inner membrane] 6 × [Complex:R-HSA-9013350] CYP11A1 mutants:FDXR:FDX1,FDX1L (red.) [mitochondrial matrix] 3 × [SimpleEntity:R-ALL-113529] H+ [mitochondrial matrix] 3 × [SimpleEntity:R-ALL-113600] NADPH [mitochondrial matrix] 3 × [SimpleEntity:R-ALL-113533] O2 [mitochondrial matrix]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5580270] Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system [LiteratureReference:5580277] Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia [LiteratureReference:5580278] Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency [LiteratureReference:5580257] Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective CYP11A1 does not cleave 20a,22b-DHCHOL
normalReaction	[Reaction:R-HSA-193101] CYP11A1 cleaves 20a,22b-DHCHOL
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-5580269
summation	[Summation:5580247] Cholesterol side-chain cleavage enzyme, mitochondrial (CYP11...
systematicName	CYP11A1 mutants do not cleave 20a,22b-DHCHOL
updateTrackers	[UpdateTracker:9780768] Update Tracker - [FailedReaction:5580269] Defective CYP11A1 does not cleave 20a,22b-DHCHOL - v62:[add_removeInput]

Referrals

(updatedInstance)	[UpdateTracker:9780768] Update Tracker - [FailedReaction:5580269] Defective CYP11A1 does not cleave 20a,22b-DHCHOL - v62:[add_removeInput]
(hasEvent)	[Pathway:R-HSA-5579026] Defective CYP11A1 causes AICSR

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