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Details on Person Defective CYP17A1 does not 17-hydroxylate P4

Class:Id	FailedReaction:9035954
_displayName	Defective CYP17A1 does not 17-hydroxylate P4
_doRelease	TRUE
_timestamp	2018-01-25 14:03:16
authored	[InstanceEdit:5601814] Jassal, Bijay, 2014-06-13
catalystActivity	[CatalystActivity:9631914] steroid 17-alpha-monooxygenase activity of CYP17A1 mutants [endoplasmic reticulum membrane]
compartment	[Compartment:70101] cytosol [Compartment:12045] endoplasmic reticulum membrane
created	[InstanceEdit:5601814] Jassal, Bijay, 2014-06-13
disease	[Disease:5600600] adrenal gland disease
edited	[InstanceEdit:5601814] Jassal, Bijay, 2014-06-13
entityFunctionalStatus	[EntityFunctionalStatus:5601774] loss_of_function of CYP17A1 mutants [endoplasmic reticulum membrane]
input	[SimpleEntity:193055] P4 [cytosol] [SimpleEntity:29364] NADPH [cytosol] [SimpleEntity:29368] O2 [cytosol] [SimpleEntity:70106] H+ [cytosol]
isChimeric	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
modified	[InstanceEdit:5627273] Jassal, Bijay, 2014-10-17 [InstanceEdit:5632882] Matthews, Lisa, 2014-10-29 [InstanceEdit:5634120] Jassal, Bijay, 2014-11-03 [InstanceEdit:5635754] Matthews, Lisa, 2014-11-07 [InstanceEdit:9631717] Wu, G, 2018-12-12 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective CYP17A1 does not 17-hydroxylate P4
normalReaction	[Reaction:193072] CYP17A1 17-hydroxylates P4 to 17aHPROG [Homo sapiens]
releaseDate	2014-12-11
reviewed	[InstanceEdit:5634119] Nakaki, Toshio, 2014-11-03
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9035957] R-HSA-9035954.3
summation	[Summation:5601818] Steroid 17-alpha-hydroxylase/17,20 lyase (CYP17A1) mediates ...
(hasEvent)	[Pathway:5579028] Defective CYP17A1 causes AH5 [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9778662] Update Tracker - [FailedReaction:9035954] Defective CYP17A1 does not 17-hydroxylate P4 - v68:[addCatalystActivity]
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