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Schema
>
FailedReaction
>
Entries
Defective MTR does not transfer CH3 group from MTHF to cob(I)alamin
Show undefined attributes
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authored
[InstanceEdit:3321899] Jassal, B, 2013-05-02
category
transition
compartment
[Compartment:70101] cytosol
created
[InstanceEdit:3321899] Jassal, B, 2013-05-02
dbId
3321918
disease
[Disease:3322121] methylmalonic aciduria and homocystinuria type cblG
displayName
Defective MTR does not transfer CH3 group from MTHF to cob(I)alamin
edited
[InstanceEdit:3321899] Jassal, B, 2013-05-02
entityFunctionalStatus
[EntityFunctionalStatus:3321961] loss_of_function of MTRR:mutant MTR(cob(I)alamin) [cytosol]
eventOf
[Pathway:R-HSA-3359469] Defective MTR causes HMAG - Homo sapiens
input
[SimpleEntity:R-ALL-200665] 5-methyl-THF [cytosol]
[Complex:R-HSA-9013303] MTRR:mutant MTR(cob(I)alamin) [cytosol]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:200732] Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders
[LiteratureReference:3321915] Defects in human methionine synthase in cblG patients
[LiteratureReference:3322111] Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name
Defective MTR does not transfer CH3 group from MTHF to cob(I)alamin
normalReaction
[Reaction:R-HSA-3149539] MTR transfers CH3 group from 5-methyl-THF to 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-3321918
summation
[Summation:3149495] Methionine synthase (MTR) catalyses the transfer of a methyl...
Referrals
(hasEvent)
[Pathway:R-HSA-3359469] Defective MTR causes HMAG
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