Reactome | OTC variants that disrupt SMG loop [mitochondrial matrix]

Schema > CandidateSet > Entries

compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9958368] Rothfels, Karen, 2025-06-19
crossReference	[DatabaseIdentifier:12020910] Mondo:0010703
dbId	9958367
disease	[Disease:9956407] ornithine carbamoyltransferase deficiency
displayName	OTC variants that disrupt SMG loop [mitochondrial matrix]
hasCandidate	[Complex:R-HSA-9956454] OTC T264A trimer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9958232] OTC T287I trimer [mitochondrial matrix] - Homo sapiens
hasMember	[Complex:R-HSA-9958204] OTC R277Q trimer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9958211] OTC R277W trimer [mitochondrial matrix] - Homo sapiens
inDisease	true
maxDepth	3
memberOf	[DefinedSet:R-HSA-9956494] OTC variant trimers [mitochondrial matrix] - Homo sapiens
name	OTC variants that disrupt SMG loop
schemaClass	CandidateSet
species	[Species:48887] Homo sapiens
stId	R-HSA-9958367

(hasMember)

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