Reactome | ASL variants cause argininosuccinate aciduria

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ASL variants cause argininosuccinate aciduria Show undefined attributes

authored	[InstanceEdit:9959888] Rothfels, Karen, 2025-07-02
created	[InstanceEdit:9956521] Rothfels, Karen, 2025-06-12
crossReference	[DatabaseIdentifier:12020907] Mondo:0008815
dbId	9956529
disease	[Disease:9956465] argininosuccinic aciduria
displayName	ASL variants cause argininosuccinate aciduria
edited	[InstanceEdit:9959888] Rothfels, Karen, 2025-07-02
eventOf	[Pathway:R-HSA-9955698] Diseases of the urea cycle - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-9956524] ASL variants don't synthesize fumarate and arginine - Homo sapiens
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9959264] Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles [LiteratureReference:452031] Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region [LiteratureReference:9959269] Mechanisms for intragenic complementation at the human argininosuccinate lyase locus [LiteratureReference:9959235] Argininosuccinate Lyase Deficiency [LiteratureReference:9959254] Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations
maxDepth	2
modified	[InstanceEdit:9970980] Rothfels, Karen, 2025-11-03
name	ASL variants cause argininosuccinate aciduria
normalPathway	[Pathway:R-HSA-70635] Urea cycle
releaseDate	2025-12-08
reviewStatus	[ReviewStatus:9821383] three stars
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-9956529
summation	[Summation:9959388] Argininosuccinate lyase (ASL) is a homotetrameric enzyme tha...

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[Pathway:R-HSA-9955698] Diseases of the urea cycle

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