Reactome | ornithine carbamoyltransferase deficiency

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ornithine carbamoyltransferase deficiency Show undefined attributes

created	[InstanceEdit:9956414] Rothfels, Karen, 2025-06-12
databaseName	DOID
dbId	9956407
definition	OMIM mapping confirmed by DO. [SN].
displayName	ornithine carbamoyltransferase deficiency
identifier	9271
name	ornithine carbamoyltransferase deficiency
referenceDatabase	[ReferenceDatabase:1247631] DOID
schemaClass	Disease
synonym	ornithine transcarbamylase deficiency deficiency of citrulline phosphorylase
url	https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:9271

Referrals

(disease)

[Pathway:R-HSA-9956522] OTC variants cause OTC deficiency
[Pathway:R-HSA-9956553] OTC main chain variants cause OTC deficiency
[FailedReaction:R-HSA-9956527] OTC variants don't synthesize L-citrulline
[DefinedSet:R-HSA-9956494] OTC variant trimers [mitochondrial matrix]
[CandidateSet:R-HSA-9958377] OTC variants that disrupt folding and protein protein interactions [mitochondrial matrix]
[Complex:R-HSA-9958187] OTC A253P trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957836] OTC A253P [mitochondrial matrix]
[Complex:R-HSA-9958219] OTC S192R trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958013] OTC S192R [mitochondrial matrix]
[Complex:R-HSA-9958222] OTC I160T trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957899] OTC I160T [mitochondrial matrix]
[Complex:R-HSA-9958240] OTC N47I trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957955] OTC N47I [mitochondrial matrix]
[Complex:R-HSA-9958241] OTC K289D trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957908] OTC K289D [mitochondrial matrix]
[Complex:R-HSA-9958209] OTC A155E trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957826] OTC A155E [mitochondrial matrix]
[Complex:R-HSA-9956449] OTC L45P trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9956424] OTC L45P [mitochondrial matrix]
[Complex:R-HSA-9958181] OTC K289N trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957911] OTC K289N [mitochondrial matrix]
[Complex:R-HSA-9958213] OTC G162E trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957865] OTC G162E [mitochondrial matrix]
[Complex:R-HSA-9958246] OTC E52G trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957856] OTC E52G [mitochondrial matrix]
[Complex:R-HSA-9958215] OTC I53S trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957901] OTC I53S [mitochondrial matrix]
[Complex:R-HSA-9958168] OTC L201P trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957922] OTC L201P [mitochondrial matrix]
[Complex:R-HSA-9958202] OTC G162R trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957868] OTC G162R [mitochondrial matrix]
[Complex:R-HSA-9958170] OTC L57Q trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957925] OTC L57Q [mitochondrial matrix]
[Complex:R-HSA-9958171] OTC E52K trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957859] OTC E52K [mitochondrial matrix]
[Complex:R-HSA-9958173] OTC R320L trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957998] OTC R320L [mitochondrial matrix]
[Complex:R-HSA-9958237] OTC I160N trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957895] OTC I160N [mitochondrial matrix]
[Complex:R-HSA-9958206] OTC V311E trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958037] OTC V311E [mitochondrial matrix]
[Complex:R-HSA-9958207] OTC A140P trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957823] OTC A140P [mitochondrial matrix]
[Complex:R-HSA-9958194] OTC T125M trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958022] OTC T125M [mitochondrial matrix]
[Complex:R-HSA-9958227] OTC Q180P trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957980] OTC Q180P [mitochondrial matrix]
[Complex:R-HSA-9958195] OTC L148S trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957913] OTC L148S [mitochondrial matrix]
[Complex:R-HSA-9958228] OTC L179P trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957916] OTC L179P [mitochondrial matrix]
[Complex:R-HSA-9958198] OTC L191R trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957920] OTC L191R [mitochondrial matrix]
[CandidateSet:R-HSA-9958379] OTC variants that disrupt ornithine binding [mitochondrial matrix]
[Complex:R-HSA-9958217] OTC M206R trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957940] OTC M206R [mitochondrial matrix]
[Complex:R-HSA-9958172] OTC L272F trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958226] OTC L272F [mitochondrial matrix]
[Complex:R-HSA-9958159] OTC G269E trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957875] OTC G269E [mitochondrial matrix]
[Complex:R-HSA-9958191] OTC M205T trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957935] OTC M205T [mitochondrial matrix]
[Complex:R-HSA-9958193] OTC D249G trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957850] OTC D249G [mitochondrial matrix]
[Complex:R-HSA-9958179] OTC F281S trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957862] OTC F281S [mitochondrial matrix]
[Complex:R-HSA-9958230] OTC K221N trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957905] OTC K221N [mitochondrial matrix]
[Complex:R-HSA-9958182] OTC N199S trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957952] OTC N199S [mitochondrial matrix]
[CandidateSet:R-HSA-9958364] OTC nonsense trimers [mitochondrial matrix]
[Complex:R-HSA-9958236] OTC E310* trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958154] OTC E310* [mitochondrial matrix]
[Complex:R-HSA-9956460] OTC G50* trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9956418] OTC G50* [mitochondrial matrix]
[Complex:R-HSA-9956448] OTC R141* trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9956421] OTC R141* [mitochondrial matrix]
[CandidateSet:R-HSA-9958383] other OTC variants [mitochondrial matrix]
[Complex:R-HSA-9956457] OTC E87K trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9956423] OTC E87K [mitochondrial matrix]
[Complex:R-HSA-9958189] OTC P225L trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957968] OTC P225L [mitochondrial matrix]
[Complex:R-HSA-9958210] OTC W332R trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958049] OTC W332R [mitochondrial matrix]
[Complex:R-HSA-9956450] OTC R129H trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9956416] OTC R129H [mitochondrial matrix]
[Complex:R-HSA-9958229] OTC W298S trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958045] OTC W298S [mitochondrial matrix]
[Complex:R-HSA-9956470] OTC I172M trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9956426] OTC I172M [mitochondrial matrix]
[Complex:R-HSA-9958183] OTC Y183C trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958057] OTC Y183C [mitochondrial matrix]
[Complex:R-HSA-9958247] OTC P225R trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957971] OTC P225R [mitochondrial matrix]
[Complex:R-HSA-9956455] OTC G195R trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9956412] OTC G195R [mitochondrial matrix]
[Complex:R-HSA-9958184] OTC P245W trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958218] OTC P245W [mitochondrial matrix]
[Complex:R-HSA-9958248] OTC W332S trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958051] OTC W332S [mitochondrial matrix]
[Complex:R-HSA-9956456] OTC R40C trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9956420] OTC R40C [mitochondrial matrix]
[Complex:R-HSA-9956458] OTC D196V trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9956417] OTC D196V [mitochondrial matrix]
[Complex:R-HSA-9958188] OTC T343R trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958033] OTC T343R [mitochondrial matrix]
[Complex:R-HSA-9956462] OTC D126G trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9956411] OTC D126G [mitochondrial matrix]
[Complex:R-HSA-9958176] OTC S164P trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958009] OTC S164P [mitochondrial matrix]
[Complex:R-HSA-9958177] OTC D196Y trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957847] OTC D196Y [mitochondrial matrix]
[Complex:R-HSA-9958178] OTC S207R trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958019] OTC S207R [mitochondrial matrix]
[Complex:R-HSA-9958243] OTC G188R trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957871] OTC G188R [mitochondrial matrix]
[Complex:R-HSA-9958244] OTC M205V trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957938] OTC M205V [mitochondrial matrix]
[Complex:R-HSA-9956452] OTC L111P trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9956419] OTC L111P [mitochondrial matrix]
[Complex:R-HSA-9958245] OTC E239V trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957853] OTC E239V [mitochondrial matrix]
[Complex:R-HSA-9958201] OTC A253T trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957838] OTC A253T [mitochondrial matrix]
[Complex:R-HSA-9958203] OTC P225T trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958238] OTC P225T [mitochondrial matrix]
[Complex:R-HSA-9958205] OTC H182L trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957883] OTC H182L [mitochondrial matrix]
[Complex:R-HSA-9958192] OTC R102E trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957989] OTC R102E [mitochondrial matrix]
[Complex:R-HSA-9958196] OTC V339G trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958039] OTC V339G [mitochondrial matrix]
[Complex:R-HSA-9956468] OTC R40H trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9956415] OTC R40H [mitochondrial matrix]
[Complex:R-HSA-9958197] OTC Y313D trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958186] OTC Y313D [mitochondrial matrix]
[Complex:R-HSA-9958199] OTC P220L trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957964] OTC P220L [mitochondrial matrix]
[Complex:R-HSA-9958216] OTC N198I trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957949] OTC N198I [mitochondrial matrix]
[Complex:R-HSA-9958220] OTC Q181G trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957983] OTC Q181G [mitochondrial matrix]
[Complex:R-HSA-9958221] OTC V339L trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958043] OTC V339L [mitochondrial matrix]
[Complex:R-HSA-9958157] OTC L76S trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957928] OTC L76S [mitochondrial matrix]
[Complex:R-HSA-9958158] OTC Y176H trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958054] OTC Y176H [mitochondrial matrix]
[Complex:R-HSA-9958223] OTC P169L trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957958] OTC P169L [mitochondrial matrix]
[Complex:R-HSA-9958208] OTC G83D trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957880] OTC G83D [mitochondrial matrix]
[Complex:R-HSA-9958212] OTC T247K trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958028] OTC T247K [mitochondrial matrix]
[Complex:R-HSA-9958214] OTC R66G trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958063] OTC R66G [mitochondrial matrix]
[Complex:R-HSA-9958233] OTC P169S trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957961] OTC P169S [mitochondrial matrix]
[Complex:R-HSA-9958234] OTC A233V trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957832] OTC A233V [mitochondrial matrix]
[Complex:R-HSA-9958235] OTC G79E trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957878] OTC G79E [mitochondrial matrix]
[Complex:R-HSA-9956446] OTC R94T trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9956425] OTC R94T [mitochondrial matrix]
[Complex:R-HSA-9958239] OTC P347S trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957976] OTC P347S [mitochondrial matrix]
[Complex:R-HSA-9958160] OTC A209V trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957830] OTC A209V [mitochondrial matrix]
[Complex:R-HSA-9958161] OTC T178M trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958025] OTC T178M [mitochondrial matrix]
[Complex:R-HSA-9958225] OTC H214Y trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9956406] OTC precursor R26Q [cytosol]
[EntityWithAccessionedSequence:R-HSA-9957931] OTC precursor M1L [cytosol]
[EntityWithAccessionedSequence:R-HSA-9957994] OTC precursor R26P [cytosol]
[DefinedSet:R-HSA-9958362] leader sequence variants of OTC [cytosol]
[FailedReaction:R-HSA-9956513] Leader sequence variants of OTC aren't targeted to the mitochondria
[Pathway:R-HSA-9956551] OTC leader sequence variants cause OTC deficiency
[EntityWithAccessionedSequence:R-HSA-9957974] OTC P305R [mitochondrial matrix]
[Complex:R-HSA-9958166] OTC P305R trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957890] OTC H302R [mitochondrial matrix]
[Complex:R-HSA-9958163] OTC H302R trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957845] OTC C303R [mitochondrial matrix]
[Complex:R-HSA-9958190] OTC C303R trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957841] OTC C303G [mitochondrial matrix]
[Complex:R-HSA-9958156] OTC C303G trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957893] OTC H302Y [mitochondrial matrix]
[Complex:R-HSA-9958185] OTC H302Y trimer [mitochondrial matrix]
[CandidateSet:R-HSA-9958373] OTC variants that disrupt catalytic residues [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957946] OTC N161D [mitochondrial matrix]
[Complex:R-HSA-9958180] OTC N161D trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9956422] OTC R141Q [mitochondrial matrix]
[Complex:R-HSA-9956467] OTC R141Q trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958007] OTC R92Q [mitochondrial matrix]
[Complex:R-HSA-9958242] OTC R92Q trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958000] OTC R92L [mitochondrial matrix]
[Complex:R-HSA-9958224] OTC R92L trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958061] OTC N161S [mitochondrial matrix]
[Complex:R-HSA-9958174] OTC N161S trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958004] OTC R92P [mitochondrial matrix]
[Complex:R-HSA-9958169] OTC R92P trimer [mitochondrial matrix]
[CandidateSet:R-HSA-9958371] OTC variants that disrupt carbamoyl phosphate binding [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9956413] OTC T264A [mitochondrial matrix]
[Complex:R-HSA-9956454] OTC T264A trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958030] OTC T287I [mitochondrial matrix]
[Complex:R-HSA-9958232] OTC T287I trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958175] OTC R277W [mitochondrial matrix]
[Complex:R-HSA-9958211] OTC R277W trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958200] OTC R277Q [mitochondrial matrix]
[Complex:R-HSA-9958204] OTC R277Q trimer [mitochondrial matrix]
[CandidateSet:R-HSA-9958367] OTC variants that disrupt SMG loop [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957992] OTC R102P [mitochondrial matrix]
[Complex:R-HSA-9958231] OTC R102P trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957943] OTC M335I [mitochondrial matrix]
[Complex:R-HSA-9958165] OTC M335I trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9958016] OTC S207N [mitochondrial matrix]
[Complex:R-HSA-9958164] OTC S207N trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957985] OTC Q216E [mitochondrial matrix]
[Complex:R-HSA-9958162] OTC Q216E trimer [mitochondrial matrix]
[EntityWithAccessionedSequence:R-HSA-9957887] OTC H214Y [mitochondrial matrix]

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