Reactome: A Curated Pathway Database
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Query author contributions in Reactome

Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.

If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.

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Details on Person OTC K289N [mitochondrial matrix]

Class:IdEntityWithAccessionedSequence:9957911
_displayNameOTC K289N [mitochondrial matrix]
_timestamp2025-06-19 19:11:24
compartment[Compartment:5460] mitochondrial matrix
created[InstanceEdit:9957910] Rothfels, Karen, 2025-06-19
crossReference[DatabaseIdentifier:9957708] ClinGen:CA412723984
[DatabaseIdentifier:9957738] ClinGen:CA224815
disease[Disease:9956407] ornithine carbamoyltransferase deficiency
endCoordinate288
hasModifiedResidue[ReplacedResidue:9957766] L-lysine 289 replaced with L-asparagine
literatureReference[LiteratureReference:9957620] Mutations and polymorphisms in the human ornithine transcarbamylase gene
[LiteratureReference:9957606] Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane
modified[InstanceEdit:9958344] Rothfels, Karen, 2025-06-19
nameOTC K289N
referenceEntity[ReferenceGeneProduct:61024] UniProt:P00480 OTC [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9957912] R-HSA-9957911.1
startCoordinate1
(hasComponent)[Complex:9958181] OTC K289N trimer [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by OTC K289N [mitochondrial matrix] (9957911)