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Schema
>
FailedReaction
>
Entries
Defective MMAB does not transfer adenosyl group from ATP to B12s
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authored
[InstanceEdit:3322153] Jassal, Bijay, 2013-05-03
catalystActivity
[CatalystActivity:9631893] cob(I)yrinic acid a,c-diamide adenosyltransferase activity of MMAB mutants [mitochondrial matrix]
category
transition
compartment
[Compartment:5460] mitochondrial matrix
created
[InstanceEdit:3322153] Jassal, Bijay, 2013-05-03
dbId
3322125
disease
[Disease:3322156] methylmalonic acidemia
displayName
Defective MMAB does not transfer adenosyl group from ATP to B12s
edited
[InstanceEdit:3322153] Jassal, Bijay, 2013-05-03
entityFunctionalStatus
[EntityFunctionalStatus:3322116] loss_of_function of MMAB mutants [mitochondrial matrix]
eventOf
[Pathway:R-HSA-3359471] Defective MMAB causes MMA, cblB type - Homo sapiens
input
[SimpleEntity:R-ALL-113593] ATP [mitochondrial matrix]
[SimpleEntity:R-ALL-3159260] cob(I)alamin [mitochondrial matrix]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:3159257] Functional characterization and mutation analysis of human ATP:Cob(I)alamin adenosyltransferase
[LiteratureReference:3159291] Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements
[LiteratureReference:3159296] Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name
Defective MMAB does not transfer adenosyl group from ATP to B12s
normalReaction
[Reaction:R-HSA-3159253] MMAB adenosylates cob(I)alamin
releaseDate
2013-09-18
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:4093346] Watkins, D, 2013-08-14
schemaClass
FailedReaction
species
[Species:48887] Homo sapiens
stId
R-HSA-3322125
summation
[Summation:3322155] Mitochondrial cob(I)yrinic acid a,c-diamide adenosyltransfer...
Referrals
(hasEvent)
[Pathway:R-HSA-3359471] Defective MMAB causes MMA, cblB type
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