Reactome | NAGS L430P [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
componentOf	[Complex:R-HSA-9955672] NAGS L430P dimer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9955672] NAGS L430P dimer [mitochondrial matrix] - Homo sapiens
created	[InstanceEdit:9955653] Rothfels, Karen, 2025-06-11
crossReference	[DatabaseIdentifier:12020908] Mondo:0009377
dbId	9955648
disease	[Disease:9955536] N-acetylglutamate synthase deficiency
displayName	NAGS L430P [mitochondrial matrix]
endCoordinate	534
hasModifiedResidue	[ReplacedResidue:9955630] L-leucine 430 replaced with L-proline
inDisease	true
literatureReference	[LiteratureReference:9955752] Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay [LiteratureReference:9955769] Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene
maxDepth	1
modified	[InstanceEdit:9955797] Rothfels, Karen, 2025-06-11
name	NAGS L430P NAGS N-acetylglutamate synthetase
referenceEntity	[ReferenceGeneProduct:uniprot:Q8N159] UniProt:Q8N159 NAGS
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9955648
startCoordinate	19

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