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Details on Person Defective MMADHC does not bind MMACHC:B12r
| Class:Id | FailedReaction:3318571 |
| _displayName | Defective MMADHC does not bind MMACHC:B12r |
| _doRelease | TRUE |
| _timestamp | 2014-09-24 13:34:31 |
| authored | [InstanceEdit:3318614] Jassal, B, 2013-04-29 |
| compartment | [Compartment:70101] cytosol |
| created | [InstanceEdit:3318614] Jassal, B, 2013-04-29 |
| disease | [Disease:3318582] methylmalonic aciduria and homocystinuria type cblD |
| edited | [InstanceEdit:3318614] Jassal, B, 2013-04-29 |
| entityFunctionalStatus | [EntityFunctionalStatus:3318566] loss_of_function of MMADHC mutants [cytosol] |
| input | [Complex:3095903] MMACHC:cob(II)alamin [cytosol] [Homo sapiens] [DefinedSet:3318583] MMADHC mutants [cytosol] [Homo sapiens] |
| isChimeric | FALSE |
| literatureReference | [LiteratureReference:3149525] Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism [LiteratureReference:3149487] Interaction between MMACHC and MMADHC, two human proteins participating in intracellular vitamin B?? metabolism [LiteratureReference:3149523] Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism [LiteratureReference:3149550] Gene identification for the cblD defect of vitamin B12 metabolism [LiteratureReference:3318597] The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis |
| modified | [InstanceEdit:3318649] Jassal, B, 2013-04-29 [InstanceEdit:3359465] Jassal, B, 2013-05-13 [InstanceEdit:3446768] Jassal, B, 2013-05-15 [InstanceEdit:3446771] Jassal, B, 2013-05-15 [InstanceEdit:4093345] Jassal, B, 2013-08-14 [InstanceEdit:5624298] Jassal, Bijay, 2014-09-24 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 |
| name | Defective MMADHC does not bind MMACHC:B12r |
| normalReaction |
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| releaseDate | 2013-09-18 |
| reviewed | [InstanceEdit:4093346] Watkins, D, 2013-08-14 |
| reviewStatus | [ReviewStatus:9821382] five stars |
| species | [Species:48887] Homo sapiens |
| stableIdentifier | [StableIdentifier:4545322] R-HSA-3318571.2 |
| summation | [Summation:3318618] MMACHC:B12r (cob(II)alamin, vitamin B12r) binding to methylm... |
| (hasEvent) | [Pathway:3359473] Defective MMADHC causes MMAHCD [Homo sapiens] |
| (updatedInstance) | [_UpdateTracker:9785870] Update Tracker - [FailedReaction:3318571] Defective MMADHC does not bind MMACHC:B12r - v51:[add_removeInput] |
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