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Details on Person NAGS variants don't synthesize N-acetylglutamate

Class:Id	FailedReaction:9955697
_displayName	NAGS variants don't synthesize N-acetylglutamate
_doRelease	TRUE
_timestamp	2025-11-03 20:14:37
authored	[InstanceEdit:9959888] Rothfels, Karen, 2025-07-02
catalystActivity	[CatalystActivity:9955689] L-glutamate N-acetyltransferase activity, acting on acetyl-CoA as donor of NAGS variant dimers [mitochondrial matrix]
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9955699] Rothfels, Karen, 2025-06-11
disease	[Disease:9955536] N-acetylglutamate synthase deficiency
edited	[InstanceEdit:9959888] Rothfels, Karen, 2025-07-02
entityFunctionalStatus	[EntityFunctionalStatus:9955694] loss_of_function of NAGS variant dimers [mitochondrial matrix]
input	[SimpleEntity:113559] Ac-CoA [mitochondrial matrix] [SimpleEntity:113552] L-Glu [mitochondrial matrix]
internalReviewed	[InstanceEdit:9960015] Orlic-Milacic, Marija, 2025-07-04
isChimeric	FALSE
literatureReference	[LiteratureReference:9955773] Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature [LiteratureReference:9955754] Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies [LiteratureReference:9955769] Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene [LiteratureReference:9955766] Mutation analysis in patients with N-acetylglutamate synthase deficiency [LiteratureReference:9955761] Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles
modified	[InstanceEdit:9955800] Rothfels, Karen, 2025-06-11 [InstanceEdit:9960130] Rothfels, Karen, 2025-07-07 [InstanceEdit:9970980] Rothfels, Karen, 2025-11-03
name	NAGS variants don't synthesize N-acetylglutamate
normalReaction	[Reaction:70542] glutamate + acetyl CoA => N-acetyl glutamate + CoA [Homo sapiens]
regulatedBy	[PositiveRegulation:70543] Positive regulation by 'L-Arg [mitochondrial matrix]'
releaseDate	2025-12-08
reviewStatus	[ReviewStatus:9821383] three stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9955701] R-HSA-9955697.1
summation	[Summation:9955790] NAGS deficiency (NAGSD, OMIM 23710) is an autosomal recessiv...
(hasEvent)	[Pathway:9955693] NAGS variants cause NAGS deficiency [Homo sapiens]
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No pathways have been reviewed or authored by NAGS variants don't synthesize N-acetylglutamate (9955697)