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Details on Person Defective B4GALT7 does not transfer Gal to xylosyl-unit of the tetrasaccharide linker

Class:IdFailedReaction:3560804
_displayNameDefective B4GALT7 does not transfer Gal to xylosyl-unit of the tetrasaccharide linker
_doReleaseTRUE
_timestamp2015-02-03 17:40:56
authored[InstanceEdit:3560797] Jassal, B, 2013-05-21
catalystActivity[CatalystActivity:9631906] xylosylprotein 4-beta-galactosyltransferase activity of B4GALT7 mutants [Golgi membrane]
compartment[Compartment:20699] Golgi membrane
[Compartment:17963] Golgi lumen
created[InstanceEdit:3560797] Jassal, B, 2013-05-21
disease[Disease:3656228] Ehlers-Danlos syndrome
edited[InstanceEdit:3560797] Jassal, B, 2013-05-21
entityFunctionalStatus[EntityFunctionalStatus:3621772] loss_of_function of B4GALT7 mutants [Golgi membrane]
input[DefinedSet:2064201] xylosyl-core proteins [Golgi lumen] [Homo sapiens]
[SimpleEntity:735682] UDP-Gal [Golgi lumen]
isChimericFALSE
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:3621807] Jassal, B, 2013-05-24
[InstanceEdit:3656245] Jassal, B, 2013-05-31
[InstanceEdit:4006088] Jassal, B, 2013-07-29
[InstanceEdit:5607062] Jassal, Bijay, 2014-07-10
[InstanceEdit:5671966] Jassal, Bijay, 2015-02-03
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
nameDefective B4GALT7 does not transfer Gal to xylosyl-unit of the tetrasaccharide linker
normalReaction
releaseDate2014-09-30
reviewed[InstanceEdit:5607064] Spillmann, Dorothe, 2014-07-09
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:5644391] R-HSA-3560804.3
summation[Summation:3621792] Beta 1,4 galactosyltransferase 7 (B4GALT7) adds galactose (G...
(hasEvent)[Pathway:3560783] Defective B4GALT7 causes EDS, progeroid type [Homo sapiens]
(updatedInstance)[_UpdateTracker:9778074] Update Tracker - [FailedReaction:3560804] Defective B4GALT7 does not transfer Gal to xylosyl-unit of the tetrasaccharide linker - v68:[addCatalystActivity]
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