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Details on Person OTC E52K [mitochondrial matrix]

Class:Id	EntityWithAccessionedSequence:9957859
_displayName	OTC E52K [mitochondrial matrix]
_timestamp	2025-06-20 14:19:40
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9957860] Rothfels, Karen, 2025-06-19
crossReference	[DatabaseIdentifier:9957694] ClinGen:CA224474
disease	[Disease:9956407] ornithine carbamoyltransferase deficiency
endCoordinate	51
hasModifiedResidue	[ReplacedResidue:9957768] L-glutamic acid 52 replaced with L-lysine
literatureReference	[LiteratureReference:9957606] Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane [LiteratureReference:9957615] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene [LiteratureReference:9956207] The functional impact of 1,570 individual amino acid substitutions in human OTC
modified	[InstanceEdit:9958461] Rothfels, Karen, 2025-06-20
name	OTC E52K
referenceEntity	[ReferenceGeneProduct:61024] UniProt:P00480 OTC [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9957861] R-HSA-9957859.1
startCoordinate	1
(hasComponent)	[Complex:9958171] OTC E52K trimer [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by OTC E52K [mitochondrial matrix] (9957859)