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Details on Person CPS1 variants don't synthesize carbamoyl phosphate

Class:IdFailedReaction:9955543
_displayNameCPS1 variants don't synthesize carbamoyl phosphate
_doReleaseTRUE
_timestamp2025-11-03 20:14:24
authored[InstanceEdit:9959888] Rothfels, Karen, 2025-07-02
catalystActivity[CatalystActivity:9955428] carbamoyl-phosphate synthase (ammonia) activity of CPS1 variants [mitochondrial matrix]
compartment[Compartment:5460] mitochondrial matrix
created[InstanceEdit:9955539] Rothfels, Karen, 2025-06-10
disease[Disease:9955434] carbamoyl phosphate synthetase I deficiency disease
edited[InstanceEdit:9959888] Rothfels, Karen, 2025-07-02
entityFunctionalStatus[EntityFunctionalStatus:9955532] loss_of_function of CPS1 variants [mitochondrial matrix]
input[SimpleEntity:113561] NH4+ [mitochondrial matrix]
[SimpleEntity:113593] ATP [mitochondrial matrix]
[SimpleEntity:113593] ATP [mitochondrial matrix]
[SimpleEntity:29896] HCO3- [mitochondrial matrix]
internalReviewed[InstanceEdit:9960015] Orlic-Milacic, Marija, 2025-07-04
isChimericFALSE
literatureReference[LiteratureReference:9954985] Congenital hyperammonemia. Association with hyperglycinemia and decreased levels of carbamyl phosphate synthetase
[LiteratureReference:9955001] Genetic, structural and biochemical basis of carbamoyl phosphate synthetase 1 deficiency
[LiteratureReference:9954948] CPS1: Looking at an ancient enzyme in a modern light
[LiteratureReference:9955129] Unraveling the therapeutic potential of carbamoyl phosphate synthetase 1 (CPS1) in human diseases
[LiteratureReference:9954963] Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis
[LiteratureReference:9955126] Understanding carbamoyl-phosphate synthetase I (CPS1) deficiency by using expression studies and structure-based analysis
[LiteratureReference:9955059] Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool
[LiteratureReference:9955113] The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency
[LiteratureReference:9954971] Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients
[LiteratureReference:9955071] Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations
[LiteratureReference:9955046] Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency
[LiteratureReference:9955087] Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1
[LiteratureReference:9954997] Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset
[LiteratureReference:9955540] Genetic approach to prenatal diagnosis in urea cycle defects
[LiteratureReference:9955120] Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: effects of CPS1 mutations that concentrate in a central domain of unknown function
[LiteratureReference:9955077] Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients
[LiteratureReference:9954953] Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort
[LiteratureReference:9954999] Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts
modified[InstanceEdit:9960130] Rothfels, Karen, 2025-07-07
[InstanceEdit:9970980] Rothfels, Karen, 2025-11-03
nameCPS1 variants don't synthesize carbamoyl phosphate
normalReaction
releaseDate2025-12-08
reviewStatus[ReviewStatus:9821383] three stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9955545] R-HSA-9955543.1
summation[Summation:9955538] Carbamoyl phosphate synthetase (CPS) 1 deficiency (OMIM 2373...
(hasEvent)[Pathway:9955542] CPS1 variants cause CPS1 deficiency [Homo sapiens]
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No pathways have been reviewed or authored by CPS1 variants don't synthesize carbamoyl phosphate (9955543)
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