Reactome | Defective MTR causes HMAG

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Defective MTR causes HMAG Show undefined attributes

authored	[InstanceEdit:3359461] Jassal, B, 2013-05-13
created	[InstanceEdit:3359476] Jassal, B, 2013-05-13
crossReference	[DatabaseIdentifier:12020852] Mondo:0009609
dbId	3359469
disease	[Disease:3322121] methylmalonic aciduria and homocystinuria type cblG
displayName	Defective MTR causes HMAG
edited	[InstanceEdit:3359461] Jassal, B, 2013-05-13
eventOf	[Pathway:R-HSA-3296469] Defects in cobalamin (B12) metabolism - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-3321918] Defective MTR does not transfer CH3 group from MTHF to cob(I)alamin - Homo sapiens [FailedReaction:R-HSA-3322140] Defective MTR does not transfer CH3 group from MeCbl to HCYS - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2017-09-27
literatureReference	[LiteratureReference:3321915] Defects in human methionine synthase in cblG patients [LiteratureReference:200732] Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders [LiteratureReference:3322111] Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective MTR causes HMAG Defective MTR causes methylmalonic aciduria and homocystinuria type cblG
normalPathway	[Pathway:R-HSA-196849] Metabolism of water-soluble vitamins and cofactors
releaseDate	2013-09-18
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:4093346] Watkins, D, 2013-08-14
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-3359469
summation	[Summation:3359477] Defects in MTR cause methylcobalamin deficiency type G (cblG...
updateTrackers	[UpdateTracker:9785486] Update Tracker - [Pathway:3359469] Defective MTR causes HMAG - v52:[removeHasEvent] [UpdateTracker:9780645] Update Tracker - [Pathway:3359469] Defective MTR causes HMAG - v62:[updateContainedRLE] [UpdateTracker:9786274] Update Tracker - [Pathway:3359469] Defective MTR causes HMAG - v50:[updateContainedPathway]

Referrals

(updatedInstance)	[UpdateTracker:9785486] Update Tracker - [Pathway:3359469] Defective MTR causes HMAG - v52:[removeHasEvent] [UpdateTracker:9780645] Update Tracker - [Pathway:3359469] Defective MTR causes HMAG - v62:[updateContainedRLE] [UpdateTracker:9786274] Update Tracker - [Pathway:3359469] Defective MTR causes HMAG - v50:[updateContainedPathway]
(hasEvent)	[Pathway:R-HSA-3296469] Defects in cobalamin (B12) metabolism