Reactome | Defective GFPT1 causes CMSTA1

Schema > Pathway > Entries

authored	[InstanceEdit:4085031] Jassal, Bijay, 2013-08-01
created	[InstanceEdit:4085031] Jassal, Bijay, 2013-08-01
crossReference	[DatabaseIdentifier:12020873] Mondo:0005500
dbId	4085023
disease	[Disease:3781892] congenital disorder of glycosylation type I
displayName	Defective GFPT1 causes CMSTA1
edited	[InstanceEdit:4085031] Jassal, Bijay, 2013-08-01
eventOf	[Pathway:R-HSA-5609975] Diseases associated with glycosylation precursor biosynthesis - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-4085027] Defective GFPT1 does not transfer an amino group from L-Gln to F6P to form GlcN6P - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:1236605] Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective GFPT1 causes CMSTA1
normalPathway	[Pathway:R-HSA-446203] Asparagine N-linked glycosylation
releaseDate	2015-06-17
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5690642] Spillmann, Dorothe, 2015-04-30
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-4085023
summation	[Summation:4085019] Glucosamine-fructose 6-phosphate aminotransferases 1 and 2 (...
updateTrackers	[UpdateTracker:9778020] Update Tracker - [Pathway:4085023] Defective GFPT1 causes CMSTA1 - v68:[updateContainedRLE]

(updatedInstance)	[UpdateTracker:9778020] Update Tracker - [Pathway:4085023] Defective GFPT1 causes CMSTA1 - v68:[updateContainedRLE]
(hasEvent)	[Pathway:R-HSA-5609975] Diseases associated with glycosylation precursor biosynthesis

Cite Us!