Reactome | OTC A253T [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
componentOf	[Complex:R-HSA-9958201] OTC A253T trimer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9958201] OTC A253T trimer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9958201] OTC A253T trimer [mitochondrial matrix] - Homo sapiens
created	[InstanceEdit:9957839] Rothfels, Karen, 2025-06-19
crossReference	[DatabaseIdentifier:12020910] Mondo:0010703 [DatabaseIdentifier:9957687] ClinGen:CA224767
dbId	9957838
disease	[Disease:9956407] ornithine carbamoyltransferase deficiency
displayName	OTC A253T [mitochondrial matrix]
endCoordinate	252
hasModifiedResidue	[ReplacedResidue:9957821] L-alanine 253 replaced with L-threonine
inDisease	true
literatureReference	[LiteratureReference:9957615] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene
maxDepth	1
name	OTC A253T
referenceEntity	[ReferenceGeneProduct:uniprot:P00480] UniProt:P00480 OTC
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9957838
startCoordinate	1

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