Reactome | Defective CYP17A1 does not 17-hydroxylate PREG

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Defective CYP17A1 does not 17-hydroxylate PREG Show undefined attributes

authored	[InstanceEdit:5601814] Jassal, Bijay, 2014-06-13
catalystActivity	[CatalystActivity:9631927] steroid 17-alpha-monooxygenase activity of CYP17A1 mutants [endoplasmic reticulum membrane]
category	transition
compartment	[Compartment:70101] cytosol [Compartment:12045] endoplasmic reticulum membrane
created	[InstanceEdit:5601814] Jassal, Bijay, 2014-06-13
crossReference	[DatabaseIdentifier:12020854] Mondo:0005495
dbId	5601843
disease	[Disease:5600600] adrenal gland disease
displayName	Defective CYP17A1 does not 17-hydroxylate PREG
edited	[InstanceEdit:5601814] Jassal, Bijay, 2014-06-13
entityFunctionalStatus	[EntityFunctionalStatus:5601774] loss_of_function of CYP17A1 mutants [endoplasmic reticulum membrane]
eventOf	[Pathway:R-HSA-5579028] Defective CYP17A1 causes AH5 - Homo sapiens
input	[SimpleEntity:R-ALL-70106] H+ [cytosol] [SimpleEntity:R-ALL-29364] NADPH [cytosol] [SimpleEntity:R-ALL-29368] O2 [cytosol] [SimpleEntity:R-ALL-193103] PREG [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5601783] Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency [LiteratureReference:5601861] Missense mutation serine106----proline causes 17 alpha-hydroxylase deficiency [LiteratureReference:5601815] Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients [LiteratureReference:5601779] A new compound heterozygous mutation (W17X, 436 + 5G --> T) in the cytochrome P450c17 gene causes 17 alpha-hydroxylase/17,20-lyase deficiency [LiteratureReference:5601770] P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping [LiteratureReference:5601755] A novel point mutation in P450c17 (CYP17) causing combined 17alpha-hydroxylase/17,20-lyase deficiency [LiteratureReference:5601810] The genetic and functional basis of isolated 17,20-lyase deficiency [LiteratureReference:5601812] Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective CYP17A1 does not 17-hydroxylate PREG
normalReaction	[Reaction:R-HSA-193068] CYP17A1 17-hydroxylates PREG
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-5601843
summation	[Summation:5601818] Steroid 17-alpha-hydroxylase/17,20 lyase (CYP17A1) mediates ...
updateTrackers	[UpdateTracker:9777963] Update Tracker - [FailedReaction:5601843] Defective CYP17A1 does not 17-hydroxylate PREG - v68:[addCatalystActivity] [UpdateTracker:9780092] Update Tracker - [FailedReaction:5601843] Defective CYP17A1 does not 17-hydroxylate PREG - v64:[add_removeInput]

Referrals

(updatedInstance)	[UpdateTracker:9777963] Update Tracker - [FailedReaction:5601843] Defective CYP17A1 does not 17-hydroxylate PREG - v68:[addCatalystActivity] [UpdateTracker:9780092] Update Tracker - [FailedReaction:5601843] Defective CYP17A1 does not 17-hydroxylate PREG - v64:[add_removeInput]
(hasEvent)	[Pathway:R-HSA-5579028] Defective CYP17A1 causes AH5

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