Reactome | Defective MGAT2 does not transfer GlcNAc to N-glycans

Schema > FailedReaction > Entries

Defective MGAT2 does not transfer GlcNAc to N-glycans Show undefined attributes

authored	[InstanceEdit:4793951] Jassal, B, 2013-10-29
catalystActivity	[CatalystActivity:9631739] alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity of MGAT2 mutants [Golgi membrane]
category	transition
compartment	[Compartment:17963] Golgi lumen [Compartment:20699] Golgi membrane
created	[InstanceEdit:4793951] Jassal, B, 2013-10-29
crossReference	[DatabaseIdentifier:12020881] Mondo:0005501
dbId	4793955
disease	[Disease:3656242] congenital disorder of glycosylation type II
displayName	Defective MGAT2 does not transfer GlcNAc to N-glycans
edited	[InstanceEdit:4793951] Jassal, B, 2013-10-29
entityFunctionalStatus	[EntityFunctionalStatus:4839825] loss_of_function of MGAT2 mutants [Golgi membrane]
eventOf	[Pathway:R-HSA-4793952] Defective MGAT2 causes CDG-2a - Homo sapiens
input	[SimpleEntity:R-ALL-975819] (GlcNAc)3 (Man)3 (Asn)1 [Golgi lumen] [SimpleEntity:R-ALL-914003] UDP-GlcNAc [Golgi lumen]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:4839814] Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism [LiteratureReference:4839834] Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism [LiteratureReference:4839792] Mental retardation, growth retardation, unusual nose, and open mouth: an autosomal recessive entity [LiteratureReference:1015715] Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development [LiteratureReference:1015735] The human UDP-N-acetylglucosamine: alpha-6-D-mannoside-beta-1,2- N-acetylglucosaminyltransferase II gene (MGAT2). Cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective MGAT2 does not transfer GlcNAc to N-glycans
normalReaction	[Reaction:R-HSA-975829] Addition of a GlcNAc on the alpha 1,4 branch by MGAT2
releaseDate	2014-12-11
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5633220] Belaya, Katsiaryna, 2014-10-31
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-4793955
summation	[Summation:4839820] Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminylt...
systematicName	MGAT2 mutants do not transfer GlcNAc to (GlcNAc)3 (Man)3 (Asn)1
updateTrackers	[UpdateTracker:9778104] Update Tracker - [FailedReaction:4793955] Defective MGAT2 does not transfer GlcNAc to N-glycans - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778104] Update Tracker - [FailedReaction:4793955] Defective MGAT2 does not transfer GlcNAc to N-glycans - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-4793952] Defective MGAT2 causes CDG-2a

Cite Us!