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 Q180P [mitochondrial matrix]

Class:IdEntityWithAccessionedSequence:9957980
_displayNameOTC Q180P [mitochondrial matrix]
_timestamp2025-06-20 14:20:00
compartment[Compartment:5460] mitochondrial matrix
created[InstanceEdit:9957979] Rothfels, Karen, 2025-06-19
crossReference[DatabaseIdentifier:9957660] ClinGen:CA412724198
disease[Disease:9956407] ornithine carbamoyltransferase deficiency
endCoordinate179
hasModifiedResidue[ReplacedResidue:9957801] L-glutamine 180 replaced with L-proline
literatureReference[LiteratureReference:9957657] [Interdisciplinary treatment of early-onset ornithine transcarbamylase (OTC) deficiency. Two case reports and a review]
[LiteratureReference:9956207] The functional impact of 1,570 individual amino acid substitutions in human OTC
modified[InstanceEdit:9958461] Rothfels, Karen, 2025-06-20
nameOTC Q180P
referenceEntity[ReferenceGeneProduct:61024] UniProt:P00480 OTC [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9957981] R-HSA-9957980.1
startCoordinate1
(hasComponent)[Complex:9958227] OTC Q180P trimer [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by OTC Q180P [mitochondrial matrix] (9957980)