{"id":"56138c45-8aea-5a66-bb08-4131211b6883","stable_key":"0ad8610d-d575-5870-b7cd-763a9f750783:copper-sco1-copper-efflux","predicate":"variants_increase","statement":"SCO1-associated cellular copper deficiency reflected increased copper efflux rather than reduced high-affinity uptake in the studied patient-cell models.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"ce30bf4e-c854-57ff-8f12-dd1a352350a4","mechanism_event_label":"The problem was copper leaving the cell too quickly.","subject":{"id":"6c18f07d-6a6e-5dcd-8294-2a3b3ee9c27c","slug":"sco1","display_name":"Human cytochrome c oxidase assembly protein SCO1","entity_type_key":"protein"},"object":{"id":"1b44d441-7b54-568f-9e42-c6b3ae027d56","slug":"cellular-copper-efflux","display_name":"Cellular copper efflux","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"ce30bf4e-c854-57ff-8f12-dd1a352350a4","stable_key":"0ad8610d-d575-5870-b7cd-763a9f750783:copper-sco1-copper-efflux-event","event_type":"biochemical_relationship","label":"The problem was copper leaving the cell too quickly.","description":"SCO1-associated cellular copper deficiency reflected increased copper efflux rather than reduced high-affinity uptake in the studied patient-cell models.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"6c18f07d-6a6e-5dcd-8294-2a3b3ee9c27c","slug":"sco1","display_name":"Human cytochrome c oxidase assembly protein SCO1","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"1b44d441-7b54-568f-9e42-c6b3ae027d56","slug":"cellular-copper-efflux","display_name":"Cellular copper efflux","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence_span","value_text":"{\"source_cache\": \"artifacts/copper-research/17189203.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"7653227df0fe557c484a72eafed6a7a96dc06f5d4f63f7eea4a5b9568949a698\", \"start_char\": 0, \"end_char\": 950, \"text_sha256\": \"7653227df0fe557c484a72eafed6a7a96dc06f5d4f63f7eea4a5b9568949a698\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"SCO1/SCO2 patient-cell analysis and genetic complementation","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Pathogenic SCO variants; transporter and rescue assays","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Copper effects varied with allele and tissue. A genetic assembly defect does not prove inadequate intake or universal response to copper supplementation.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Copper research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"copper","display_name":"Copper","entity_type_key":"nutrient_element"}},{"dimension":"organism","value_text":"Human","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"The problem was copper leaving the cell too quickly.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[copper-p17189203] The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis. (2007). https://pubmed.ncbi.nlm.nih.gov/17189203/ DOI: 10.1016/j.cmet.2006.12.001","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Patient-derived cellular systems","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"fa61022b-3870-55d6-8c10-003bc110df17","evidence_kind":"source_excerpt","locator":"Lines 702-713","start_line":702,"end_line":713,"excerpt":"### copper-sco1-copper-efflux\nSCO1-associated cellular copper deficiency reflected increased copper efflux rather than reduced high-affinity uptake in the studied patient-cell models.\nCondition category: machinery_impairment\nnutrient_topic: Copper research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: The problem was copper leaving the cell too quickly.\norganism: Human\ntissue_or_cell_type: Patient-derived cellular systems\nexperimental_model: SCO1/SCO2 patient-cell analysis and genetic complementation\nlimitations: Copper effects varied with allele and tissue. A genetic assembly defect does not prove inadequate intake or universal response to copper supplementation.\nexposure: Pathogenic SCO variants; transporter and rescue assays\nevidence_span: {\"source_cache\": \"artifacts/copper-research/17189203.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"7653227df0fe557c484a72eafed6a7a96dc06f5d4f63f7eea4a5b9568949a698\", \"start_char\": 0, \"end_char\": 950, \"text_sha256\": \"7653227df0fe557c484a72eafed6a7a96dc06f5d4f63f7eea4a5b9568949a698\"}\n[copper-p17189203] The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis. (2007). https://pubmed.ncbi.nlm.nih.gov/17189203/ DOI: 10.1016/j.cmet.2006.12.001","model_system":"SCO1/SCO2 patient-cell analysis and genetic complementation","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [copper-p17189203] The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis. (2007). https://pubmed.ncbi.nlm.nih.gov/17189203/ DOI: 10.1016/j.cmet.2006.12.001","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"9afba495-cbdc-51aa-998e-70a930dba3be","stable_key":"import-0ad8610d-d575-5870-b7cd-763a9f750783","title":"Copper: transport, cuproenzymes, deficiency, excess and nutrient interactions (2026-09-17)","document_type":"imported_text","citation_label":"AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. 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