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Details on Person Defective CYP19A1 does not convert ANDST to E1
| Class:Id | FailedReaction:5601849 |
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| _displayName | Defective CYP19A1 does not convert ANDST to E1 |
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| _doRelease | TRUE |
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| _timestamp | 2014-11-20 02:50:45 |
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| authored | [InstanceEdit:5601814] Jassal, Bijay, 2014-06-13 |
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| catalystActivity | [CatalystActivity:9631860] steroid hydroxylase activity of CYP19A1 mutants [endoplasmic reticulum membrane] |
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| compartment | [Compartment:70101] cytosol
[Compartment:12045] endoplasmic reticulum membrane |
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| created | [InstanceEdit:5601814] Jassal, Bijay, 2014-06-13 |
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| disease | [Disease:5601957] pseudohermaphroditism |
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| edited | [InstanceEdit:5601814] Jassal, Bijay, 2014-06-13 |
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| entityFunctionalStatus | [EntityFunctionalStatus:5601984] loss_of_function of CYP19A1 mutants [endoplasmic reticulum membrane] |
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| input | [SimpleEntity:193079] ANDST [cytosol]
[SimpleEntity:70106] H+ [cytosol]
[SimpleEntity:70106] H+ [cytosol]
[SimpleEntity:70106] H+ [cytosol]
[SimpleEntity:29364] NADPH [cytosol]
[SimpleEntity:29364] NADPH [cytosol]
[SimpleEntity:29364] NADPH [cytosol]
[SimpleEntity:29368] O2 [cytosol]
[SimpleEntity:29368] O2 [cytosol]
[SimpleEntity:29368] O2 [cytosol] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:5601816] Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries
[LiteratureReference:5601792] Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment
[LiteratureReference:5601845] Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens
[LiteratureReference:5601862] Effect of testosterone and estradiol in a man with aromatase deficiency |
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| modified | [InstanceEdit:5601985] Jassal, Bijay, 2014-06-16
[InstanceEdit:5627273] Jassal, Bijay, 2014-10-17
[InstanceEdit:5633252] Matthews, Lisa, 2014-10-31
[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 |
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| name | Defective CYP19A1 does not convert ANDST to E1 |
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| normalReaction |
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| releaseDate | 2014-12-11 |
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| reviewed | [InstanceEdit:5634119] Nakaki, Toshio, 2014-11-03 |
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| reviewStatus | [ReviewStatus:9821382] five stars |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:5644945] R-HSA-5601849.3 |
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| summation | [Summation:5601804] Aromatase (CYP19A1) catalyses the conversion of androstenedi... |
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| systematicName | CYP19A1 does not hydroxylate ANDST |
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| (hasEvent) | [Pathway:5579030] Defective CYP19A1 causes AEXS [Homo sapiens] |
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| (updatedInstance) | [_UpdateTracker:9778449] Update Tracker - [FailedReaction:5601849] Defective CYP19A1 does not convert ANDST to E1 - v68:[addCatalystActivity] |
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