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Details on Person ARG1 variants don't synthesize urea and ornithine

Class:IdFailedReaction:9956512
_displayNameARG1 variants don't synthesize urea and ornithine
_doReleaseTRUE
_timestamp2025-11-03 20:13:57
authored[InstanceEdit:9959888] Rothfels, Karen, 2025-07-02
catalystActivity[CatalystActivity:9956525] arginase activity of ARG1 variant trimers [cytosol]
compartment[Compartment:70101] cytosol
created[InstanceEdit:9956521] Rothfels, Karen, 2025-06-12
disease[Disease:9956469] hyperargininemia
edited[InstanceEdit:9959888] Rothfels, Karen, 2025-07-02
entityFunctionalStatus[EntityFunctionalStatus:9956528] loss_of_function of ARG1 variant trimers [cytosol]
input[SimpleEntity:29356] H2O [cytosol]
[SimpleEntity:29468] L-Arg [cytosol]
internalReviewed[InstanceEdit:9960015] Orlic-Milacic, Marija, 2025-07-04
isChimericFALSE
literatureReference[LiteratureReference:9959519] Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations
[LiteratureReference:9959593] Arginase Deficiency
[LiteratureReference:9959548] Identification of a novel R21X mutation in the liver-type arginase gene (ARG1) in four Portuguese patients with argininemia
[LiteratureReference:9959550] Five novel mutations in ARG1 gene in Chinese patients of argininemia
[LiteratureReference:9959522] Molecular genetic study of human arginase deficiency
[LiteratureReference:9959590] Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes
[LiteratureReference:452019] Molecular basis of phenotypic variation in patients with argininemia
[LiteratureReference:9959504] Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia
modified[InstanceEdit:9959646] Rothfels, Karen, 2025-06-30
[InstanceEdit:9960130] Rothfels, Karen, 2025-07-07
[InstanceEdit:9970980] Rothfels, Karen, 2025-11-03
nameARG1 variants don't synthesize urea and ornithine
normalReaction
releaseDate2025-12-08
reviewStatus[ReviewStatus:9821383] three stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9956533] R-HSA-9956512.1
summation[Summation:9959517] Mutations in ARG1 lead to Arginase 1 deficiency, also known ...
(hasEvent)[Pathway:9956514] ARG1 variants cause hyperargininemia [Homo sapiens]
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No pathways have been reviewed or authored by ARG1 variants don't synthesize urea and ornithine (9956512)
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