Reactome | Defective GALK1 causes GALCT2

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authored	[InstanceEdit:5609973] Jassal, Bijay, 2014-07-18
created	[InstanceEdit:5609973] Jassal, Bijay, 2014-07-18
crossReference	[DatabaseIdentifier:12020876] Mondo:0009255
dbId	5609976
disease	[Disease:5610025] galactokinase deficiency
displayName	Defective GALK1 causes GALCT2
edited	[InstanceEdit:5609973] Jassal, Bijay, 2014-07-18
eventOf	[Pathway:R-HSA-5609975] Diseases associated with glycosylation precursor biosynthesis - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-5610026] Defective GALK1 does not phosphorylate Gal - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:5610031] Clinical features of galactokinase deficiency: a review of the literature
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective GALK1 causes GALCT2 Defective GALK1 can cause Galactosemia II (GALCT2)
normalPathway	[Pathway:R-HSA-70370] Galactose catabolism
releaseDate	2015-06-17
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5678669] Timson, David J, 2015-02-25
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-5609976
summation	[Summation:5610046] Cytosolic galactokinase (GALK1) catalyses the first committe...
updateTrackers	[UpdateTracker:9778395] Update Tracker - [Pathway:5609976] Defective GALK1 causes GALCT2 - v68:[updateContainedRLE]

(updatedInstance)	[UpdateTracker:9778395] Update Tracker - [Pathway:5609976] Defective GALK1 causes GALCT2 - v68:[updateContainedRLE]
(hasEvent)	[Pathway:R-HSA-5609975] Diseases associated with glycosylation precursor biosynthesis

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