Reactome | Defective B4GALT7 does not transfer Gal to xylosyl-unit of the tetrasaccharide linker

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Defective B4GALT7 does not transfer Gal to xylosyl-unit of the tetrasaccharide linker Show undefined attributes

authored	[InstanceEdit:3560797] Jassal, B, 2013-05-21
catalystActivity	[CatalystActivity:9631906] xylosylprotein 4-beta-galactosyltransferase activity of B4GALT7 mutants [Golgi membrane]
category	transition
compartment	[Compartment:20699] Golgi membrane [Compartment:17963] Golgi lumen
created	[InstanceEdit:3560797] Jassal, B, 2013-05-21
dbId	3560804
disease	[Disease:3656228] Ehlers-Danlos syndrome
displayName	Defective B4GALT7 does not transfer Gal to xylosyl-unit of the tetrasaccharide linker
edited	[InstanceEdit:3560797] Jassal, B, 2013-05-21
entityFunctionalStatus	[EntityFunctionalStatus:3621772] loss_of_function of B4GALT7 mutants [Golgi membrane]
eventOf	[Pathway:R-HSA-3560783] Defective B4GALT7 causes EDS, progeroid type - Homo sapiens
input	[SimpleEntity:R-ALL-735682] UDP-Gal [Golgi lumen] [DefinedSet:R-HSA-2064201] xylosyl-core proteins [Golgi lumen]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:1889980] Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family [LiteratureReference:1889988] Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene [LiteratureReference:3621762] Molecular characterization of ?1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS) [LiteratureReference:3621747] A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type [LiteratureReference:5607061] Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective B4GALT7 does not transfer Gal to xylosyl-unit of the tetrasaccharide linker
normalReaction	[Reaction:R-HSA-1889981] B4GALT7 transfers Gal group to xylosyl-unit of the tetrasaccharide linker
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-3560804
summation	[Summation:3621792] Beta 1,4 galactosyltransferase 7 (B4GALT7) adds galactose (G...

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[Pathway:R-HSA-3560783] Defective B4GALT7 causes EDS, progeroid type

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