Reactome | OTC R129H [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
componentOf	[Complex:R-HSA-9956450] OTC R129H trimer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9956450] OTC R129H trimer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9956450] OTC R129H trimer [mitochondrial matrix] - Homo sapiens
created	[InstanceEdit:9956414] Rothfels, Karen, 2025-06-12
crossReference	[DatabaseIdentifier:12020910] Mondo:0010703
dbId	9956416
disease	[Disease:9956407] ornithine carbamoyltransferase deficiency
displayName	OTC R129H [mitochondrial matrix]
endCoordinate	354
hasModifiedResidue	[ReplacedResidue:9956380] L-arginine 129 replaced with L-histidine
inDisease	true
literatureReference	[LiteratureReference:9956207] The functional impact of 1,570 individual amino acid substitutions in human OTC [LiteratureReference:9956163] Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity [LiteratureReference:9956151] Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency
maxDepth	1
name	OTC R129H ornithine transcarbamylase ornithine carbamoyltransferase, mitochondrial
referenceEntity	[ReferenceGeneProduct:uniprot:P00480] UniProt:P00480 OTC
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9956416
startCoordinate	33

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