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Details on Person Defective CYP24A1 does not 24-hydroxylate CALTOL
| Class:Id | FailedReaction:5602004 |
| _displayName | Defective CYP24A1 does not 24-hydroxylate CALTOL |
| _doRelease | TRUE |
| _timestamp | 2014-11-20 02:51:10 |
| authored | [InstanceEdit:5602016] Jassal, Bijay, 2014-06-16 |
| catalystActivity | [CatalystActivity:9631766] 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity of CYP24A1 mutants [mitochondrial inner membrane] |
| compartment | [Compartment:5460] mitochondrial matrix [Compartment:70616] mitochondrial inner membrane |
| created | [InstanceEdit:5602016] Jassal, Bijay, 2014-06-16 |
| disease | [Disease:5602006] hypercalcemia |
| edited | [InstanceEdit:5602016] Jassal, Bijay, 2014-06-16 |
| entityFunctionalStatus | [EntityFunctionalStatus:5602019] loss_of_function of CYP24A1 mutants [mitochondrial inner membrane] |
| input | [SimpleEntity:215607] CTL [mitochondrial matrix] [SimpleEntity:113600] NADPH [mitochondrial matrix] [SimpleEntity:113529] H+ [mitochondrial matrix] [SimpleEntity:113533] O2 [mitochondrial matrix] |
| isChimeric | FALSE |
| literatureReference | [LiteratureReference:5601999] Mutations in CYP24A1 and idiopathic infantile hypercalcemia |
| modified | [InstanceEdit:5602024] 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 |
| name | Defective CYP24A1 does not 24-hydroxylate CALTOL |
| normalReaction |
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| releaseDate | 2014-12-11 |
| reviewed | [InstanceEdit:5634119] Nakaki, Toshio, 2014-11-03 |
| reviewStatus | [ReviewStatus:9821382] five stars |
| species | [Species:48887] Homo sapiens |
| stableIdentifier | [StableIdentifier:5644960] R-HSA-5602004.3 |
| summation | [Summation:5601998] Catabolic inactivation of the active, hormonal form of vitam... |
| systematicName | CYP24A1 mutants do not hydroxylate CTL |
| (hasEvent) | [Pathway:5579010] Defective CYP24A1 causes HCAI [Homo sapiens] |
| (updatedInstance) | [_UpdateTracker:9777969] Update Tracker - [FailedReaction:5602004] Defective CYP24A1 does not 24-hydroxylate CALTOL - v68:[addCatalystActivity] |
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