Reactome | Defective B4GALT1 does not transfer Gal to a branch of keratan

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Defective B4GALT1 does not transfer Gal to a branch of keratan Show undefined attributes

authored	[InstanceEdit:3656262] Jassal, B, 2013-05-31
catalystActivity	[CatalystActivity:9631811] beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity of B4GALT1 R345Kfs*6 [Golgi membrane]
category	transition
compartment	[Compartment:17963] Golgi lumen [Compartment:20699] Golgi membrane
created	[InstanceEdit:3656245] Jassal, B, 2013-05-31
dbId	9035950
disease	[Disease:3656242] congenital disorder of glycosylation type II
displayName	Defective B4GALT1 does not transfer Gal to a branch of keratan
edited	[InstanceEdit:3656245] Jassal, B, 2013-05-31
entityFunctionalStatus	[EntityFunctionalStatus:3656429] loss_of_function of B4GALT1 R345Kfs*6 [Golgi membrane]
eventOf	[Pathway:R-HSA-3656244] Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) - Homo sapiens
input	[DefinedSet:R-HSA-2046206] Keratan(2)-PG [Golgi lumen] [SimpleEntity:R-ALL-735682] UDP-Gal [Golgi lumen]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:1015828] Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective B4GALT1 does not transfer Gal to a branch of keratan
normalReaction	[Reaction:R-HSA-2046298] B4GALTs transfer Gal to a branch of keratan
releaseDate	2014-09-30
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5607064] Spillmann, Dorothe, 2014-07-09
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-9035950
summation	[Summation:3656433] The family of beta 4-galactosyltransferases (B4GALTs) is com...

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(hasEvent)

[Pathway:R-HSA-3656244] Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)

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