Reactome | OTC R102P [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
componentOf	[Complex:R-HSA-9958231] OTC R102P trimer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9958231] OTC R102P trimer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9958231] OTC R102P trimer [mitochondrial matrix] - Homo sapiens
created	[InstanceEdit:9957991] Rothfels, Karen, 2025-06-19
crossReference	[DatabaseIdentifier:12020910] Mondo:0010703 [DatabaseIdentifier:9957665] ClinGen:CA412718220
dbId	9957992
disease	[Disease:9956407] ornithine carbamoyltransferase deficiency
displayName	OTC R102P [mitochondrial matrix]
endCoordinate	101
hasModifiedResidue	[ReplacedResidue:9957760] L-arginine 102 replaced with L-proline
inDisease	true
literatureReference	[LiteratureReference:9958120] Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families
maxDepth	1
modified	[InstanceEdit:9958346] Rothfels, Karen, 2025-06-19
name	OTC R102P
referenceEntity	[ReferenceGeneProduct:uniprot:P00480] UniProt:P00480 OTC
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9957992
startCoordinate	1

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