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Details on Person Defective MTRR does not convert cob(II)alamin to MeCbl
| Class:Id | FailedReaction:3318563 |
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| _displayName | Defective MTRR does not convert cob(II)alamin to MeCbl |
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| _doRelease | TRUE |
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| _timestamp | 2022-03-02 15:33:19 |
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| authored | [InstanceEdit:3318614] Jassal, B, 2013-04-29 |
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| compartment | [Compartment:70101] cytosol |
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| created | [InstanceEdit:3318614] Jassal, B, 2013-04-29 |
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| disease | [Disease:3322154] methylmalonic aciduria and homocystinuria type cblE |
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| edited | [InstanceEdit:3318614] Jassal, B, 2013-04-29 |
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| entityFunctionalStatus | [EntityFunctionalStatus:3321958] loss_of_function of mutant MTRR:MTR(cob(II)alamin) [cytosol] |
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| input | [Complex:9013254] mutant MTRR:MTR(cob(II)alamin) [cytosol] [Homo sapiens]
[Complex:9013254] mutant MTRR:MTR(cob(II)alamin) [cytosol] [Homo sapiens]
[SimpleEntity:29364] NADPH [cytosol]
[SimpleEntity:71284] AdoMet [cytosol]
[SimpleEntity:71284] AdoMet [cytosol] |
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| isChimeric | FALSE |
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| literatureReference | [LiteratureReference:3149545] Mechanism of coenzyme binding to human methionine synthase reductase revealed through the crystal structure of the FNR-like module and isothermal titration calorimetry
[LiteratureReference:3149488] Protein interactions in the human methionine synthase-methionine synthase reductase complex and implications for the mechanism of enzyme reactivation
[LiteratureReference:3149476] Cobalamin uptake and reactivation occurs through specific protein interactions in the methionine synthase-methionine synthase reductase complex
[LiteratureReference:3149477] Molecular basis for methionine synthase reductase deficiency in patients belonging to the cblE complementation group of disorders in folate/cobalamin metabolism
[LiteratureReference:3149537] A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida
[LiteratureReference:3149517] Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida
[LiteratureReference:3321910] Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria
[LiteratureReference:3321954] CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families
[LiteratureReference:3321962] cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression
[LiteratureReference:3928683] The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria |
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| modified | [InstanceEdit:3318649] Jassal, B, 2013-04-29
[InstanceEdit:3321899] Jassal, B, 2013-05-02
[InstanceEdit:3322153] Jassal, Bijay, 2013-05-03
[InstanceEdit:3446768] Jassal, B, 2013-05-15
[InstanceEdit:3928677] Jassal, B, 2013-07-23
[InstanceEdit:3928680] Jassal, Bijay, 2013-07-23
[InstanceEdit:4093345] Jassal, B, 2013-08-14
[InstanceEdit:5671966] Jassal, Bijay, 2015-02-03
[InstanceEdit:9013253] Jassal, Bijay, 2017-07-24
[InstanceEdit:9767968] D'Eustachio, Peter, 2022-03-02
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 |
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| name | Defective MTRR does not convert cob(II)alamin to MeCbl |
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| normalReaction |
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| releaseDate | 2013-09-18 |
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| reviewed | [InstanceEdit:4093346] Watkins, D, 2013-08-14 |
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| reviewStatus | [ReviewStatus:9821382] five stars |
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| species | [Species:48887] Homo sapiens |
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| stableIdentifier | [StableIdentifier:4545302] R-HSA-3318563.4 |
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| summation | [Summation:3149485] Methionine synthase reductase (MTRR), in a stable complex wi... |
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| (hasEvent) | [Pathway:3359467] Defective MTRR causes HMAE [Homo sapiens] |
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| (updatedInstance) | [_UpdateTracker:9774897] Update Tracker - [FailedReaction:3318563] Defective MTRR does not convert cob(II)alamin to MeCbl - v80:[modifyText, removeInput]
[_UpdateTracker:9780531] Update Tracker - [FailedReaction:3318563] Defective MTRR does not convert cob(II)alamin to MeCbl - v62:[add_removeInput]
[_UpdateTracker:9785984] Update Tracker - [FailedReaction:3318563] Defective MTRR does not convert cob(II)alamin to MeCbl - v50:[modifyText] |
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