Reactome | OTC R141* [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
componentOf	[Complex:R-HSA-9956448] OTC R141* trimer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9956448] OTC R141* trimer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9956448] OTC R141* trimer [mitochondrial matrix] - Homo sapiens
created	[InstanceEdit:9956414] Rothfels, Karen, 2025-06-12
crossReference	[DatabaseIdentifier:12020910] Mondo:0010703
dbId	9956421
disease	[Disease:9956407] ornithine carbamoyltransferase deficiency
displayName	OTC R141* [mitochondrial matrix]
endCoordinate	354
hasModifiedResidue	[NonsenseMutation:9956400] Nonsense mutation at L-arginine 141
inDisease	true
literatureReference	[LiteratureReference:9956177] Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene
maxDepth	1
name	OTC R141* ornithine transcarbamylase ornithine carbamoyltransferase, mitochondrial
referenceEntity	[ReferenceGeneProduct:uniprot:P00480] UniProt:P00480 OTC
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9956421
startCoordinate	33

(hasComponent)

Cite Us!