Reactome | Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)

authored	[InstanceEdit:3656262] Jassal, B, 2013-05-31
created	[InstanceEdit:3656245] Jassal, B, 2013-05-31
crossReference	[DatabaseIdentifier:12020881] Mondo:0005501
dbId	3656244
disease	[Disease:3656242] congenital disorder of glycosylation type II
displayName	Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
edited	[InstanceEdit:3656245] Jassal, B, 2013-05-31
eventOf	[Pathway:R-HSA-3560782] Diseases associated with glycosaminoglycan metabolism - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-3656230] Defective B4GALT1 does not transfer Gal to the keratan chain - Homo sapiens [FailedReaction:R-HSA-9035949] Defective B4GALT1 does not transfer Gal to the N-glycan precursor - Homo sapiens [FailedReaction:R-HSA-9035950] Defective B4GALT1 does not transfer Gal to a branch of keratan - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:4006083] Congenital disorders of glycosylation [LiteratureReference:1015828] Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId
maxDepth	2
modified	[InstanceEdit:9953280] Stephan, Ralf, 2025-06-02
name	Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
normalPathway	[Pathway:R-HSA-1638074] Keratan sulfate/keratin metabolism
releaseDate	2014-09-30
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5607064] Spillmann, Dorothe, 2014-07-09
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-3656244
summation	[Summation:3656471] Congenital disorders of glycosylation (CDG, previously calle...
updateTrackers	[UpdateTracker:9785743] Update Tracker - [Pathway:3656244] Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) - v51:[modifyText, updateContainedRLE] [UpdateTracker:9779892] Update Tracker - [Pathway:3656244] Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) - v64:[addHasEvent, updateContainedRLE] [UpdateTracker:9778640] Update Tracker - [Pathway:3656244] Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) - v68:[updateContainedRLE] [UpdateTracker:9785278] Update Tracker - [Pathway:3656244] Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) - v52:[removeHasEvent] [UpdateTracker:9782100] Update Tracker - [Pathway:3656244] Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) - v59:[updateContainedRLE]

Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) Show undefined attributes

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