Reactome | OTC T125M [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
componentOf	[Complex:R-HSA-9958194] OTC T125M trimer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9958194] OTC T125M trimer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9958194] OTC T125M trimer [mitochondrial matrix] - Homo sapiens
created	[InstanceEdit:9958021] Rothfels, Karen, 2025-06-19
crossReference	[DatabaseIdentifier:12020910] Mondo:0010703 [DatabaseIdentifier:9957672] ClinGen:CA211702
dbId	9958022
disease	[Disease:9956407] ornithine carbamoyltransferase deficiency
displayName	OTC T125M [mitochondrial matrix]
endCoordinate	124
hasModifiedResidue	[ReplacedResidue:9957778] L-threonine 125 replaced with L-methionine
inDisease	true
literatureReference	[LiteratureReference:9957631] Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia [LiteratureReference:9957606] Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane [LiteratureReference:9956207] The functional impact of 1,570 individual amino acid substitutions in human OTC
maxDepth	1
modified	[InstanceEdit:9958461] Rothfels, Karen, 2025-06-20
name	OTC T125M
referenceEntity	[ReferenceGeneProduct:uniprot:P00480] UniProt:P00480 OTC
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9958022
startCoordinate	1

(hasComponent)

Cite Us!