{"id":"14a0e37d-df63-50e4-bbd7-b7162329ecb3","stable_key":"0ad8610d-d575-5870-b7cd-763a9f750783:copper-sco2-copper-homeostasis","predicate":"variants_disrupt","statement":"SCO2 variants also produced tissue- and allele-specific cellular copper deficiency through increased efflux.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"6a84392b-5725-5ad0-bc93-c85129325c2f","mechanism_event_label":"A second mitochondrial assembly protein also influences whole-cell copper balance.","subject":{"id":"e25e0c1c-c92d-5936-addb-3b872c35523a","slug":"sco2","display_name":"Human cytochrome c oxidase assembly protein SCO2","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":"6a84392b-5725-5ad0-bc93-c85129325c2f","stable_key":"0ad8610d-d575-5870-b7cd-763a9f750783:copper-sco2-copper-homeostasis-event","event_type":"biochemical_relationship","label":"A second mitochondrial assembly protein also influences whole-cell copper balance.","description":"SCO2 variants also produced tissue- and allele-specific cellular copper deficiency through increased efflux.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"e25e0c1c-c92d-5936-addb-3b872c35523a","slug":"sco2","display_name":"Human cytochrome c oxidase assembly protein SCO2","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":"A second mitochondrial assembly protein also influences whole-cell copper balance.","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. 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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. 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