Reactome | OTC variants don't synthesize L-citrulline

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OTC variants don't synthesize L-citrulline Show undefined attributes

authored	[InstanceEdit:9959888] Rothfels, Karen, 2025-07-02
catalystActivity	[CatalystActivity:9956511] ornithine carbamoyltransferase activity of OTC variant trimers [mitochondrial matrix]
category	transition
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9956521] Rothfels, Karen, 2025-06-12
crossReference	[DatabaseIdentifier:12020910] Mondo:0010703
dbId	9956527
disease	[Disease:9956407] ornithine carbamoyltransferase deficiency
displayName	OTC variants don't synthesize L-citrulline
edited	[InstanceEdit:9959888] Rothfels, Karen, 2025-07-02
entityFunctionalStatus	[EntityFunctionalStatus:9956526] loss_of_function of OTC variant trimers [mitochondrial matrix]
eventOf	[Pathway:R-HSA-9956553] OTC main chain variants cause OTC deficiency - Homo sapiens
input	[SimpleEntity:R-ALL-29676] CAP [mitochondrial matrix] [SimpleEntity:R-ALL-113585] L-Orn [mitochondrial matrix]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9958409] Ornithine Transcarbamylase - From Structure to Metabolism: An Update [LiteratureReference:9957562] Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update [LiteratureReference:9956193] Site specific screening for point mutations in ornithine transcarbamylase deficiency [LiteratureReference:9956177] Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene [LiteratureReference:9956174] Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations [LiteratureReference:9956207] The functional impact of 1,570 individual amino acid substitutions in human OTC [LiteratureReference:9956158] Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes [LiteratureReference:9957541] Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency [LiteratureReference:9956187] Seven new mutations in the human ornithine transcarbamylase gene [LiteratureReference:9958102] A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern [LiteratureReference:9957631] Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia [LiteratureReference:9958107] Expression, purification and kinetic characterization of wild-type human ornithine transcarbamylase and a recurrent mutant that produces 'late onset' hyperammonaemia [LiteratureReference:9958116] Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency [LiteratureReference:9957620] Mutations and polymorphisms in the human ornithine transcarbamylase gene [LiteratureReference:9957578] Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro [LiteratureReference:9957592] Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency [LiteratureReference:9957615] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene [LiteratureReference:9957527] A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency [LiteratureReference:9957624] Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia [LiteratureReference:9956212] An arginine to glutamine mutation in residue 109 of human ornithine transcarbamylase completely abolishes enzymatic activity in Cos1 cells [LiteratureReference:9957610] Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations [LiteratureReference:9957622] Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum [LiteratureReference:9957629] Ornithine transcarbamylase deficiency: new sites with increased probability of mutation [LiteratureReference:9956183] Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage [LiteratureReference:9957568] Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency [LiteratureReference:9957606] Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane [LiteratureReference:9957555] Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype [LiteratureReference:9957657] [Interdisciplinary treatment of early-onset ornithine transcarbamylase (OTC) deficiency. Two case reports and a review] [LiteratureReference:9957552] Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns [corrected] [LiteratureReference:9957635] Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency
maxDepth	1
modified	[InstanceEdit:9970980] Rothfels, Karen, 2025-11-03
name	OTC variants don't synthesize L-citrulline
normalReaction	[Reaction:R-HSA-70560] carbamoyl phosphate + ornithine => citrulline + orthophosphate
releaseDate	2025-12-08
reviewStatus	[ReviewStatus:9821383] three stars
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-9956527
summation	[Summation:9958458] Mutations in OTC are the most prevalent cause of urea cycle ...

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[Pathway:R-HSA-9956553] OTC main chain variants cause OTC deficiency

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