{"id":"adeed700-9775-5711-b4d8-f9b1c844a841","stable_key":"195e8b84-ca5a-591a-a045-c55c53c8a01c:sodium-asbt-trafficking","predicate":"disease_variants_preserve","statement":"The dysfunctional L243P/T262M constructs retained protein expression and plasma-membrane trafficking.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"2ecced69-d73c-5e86-abc0-3cce06d3de36","mechanism_event_label":"A transporter can reach the right place but still fail to carry its cargo.","subject":{"id":"9de56dfa-5cbc-58b6-975c-32c49e51a581","slug":"slc10a2","display_name":"Human ileal sodium/bile acid transporter ASBT / SLC10A2","entity_type_key":"protein"},"object":{"id":"f0b6bcb6-5d41-5d9d-af9f-6af1a94d5c5a","slug":"plasma-membrane","display_name":"Plasma membrane","entity_type_key":"organelle"},"evidence_count":1,"mechanism_event":{"id":"2ecced69-d73c-5e86-abc0-3cce06d3de36","stable_key":"195e8b84-ca5a-591a-a045-c55c53c8a01c:sodium-asbt-trafficking-event","event_type":"biochemical_relationship","label":"A transporter can reach the right place but still fail to carry its cargo.","description":"The dysfunctional L243P/T262M constructs retained protein expression and plasma-membrane trafficking.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"9de56dfa-5cbc-58b6-975c-32c49e51a581","slug":"slc10a2","display_name":"Human ileal sodium/bile acid transporter ASBT / SLC10A2","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"f0b6bcb6-5d41-5d9d-af9f-6af1a94d5c5a","slug":"plasma-membrane","display_name":"Plasma membrane","entity_type_key":"organelle"},"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/sodium-research/9109432.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"019508b2d05ec7e21a73ff66bdea9a0b09c6c7e7d8e404de3db49b2a0825ebbe\", \"start_char\": 0, \"end_char\": 1389, \"text_sha256\": \"019508b2d05ec7e21a73ff66bdea9a0b09c6c7e7d8e404de3db49b2a0825ebbe\"}","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human family genetics and transfected COS-cell transport assays","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"L243P, T262M and double-mutant constructs","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Family-specific genetic disease; loss of bile-acid transport was tested, whereas individual fat-soluble-vitamin deficiencies were not.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Sodium research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"sodium","display_name":"Sodium","entity_type_key":"nutrient_element"}},{"dimension":"organism","value_text":"Human SLC10A2","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"A transporter can reach the right place but still fail to carry its cargo.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[sodium-p9109432] Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). (1997). https://pubmed.ncbi.nlm.nih.gov/9109432/ DOI: 10.1172/jci119355","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Ileal bile-acid transporter","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":"e7f9ab71-3de7-503a-90b1-38a94b13a5e4","evidence_kind":"source_excerpt","locator":"Lines 655-666","start_line":655,"end_line":666,"excerpt":"### sodium-asbt-trafficking\nThe dysfunctional L243P/T262M constructs retained protein expression and plasma-membrane trafficking.\nCondition category: machinery_impairment\nnutrient_topic: Sodium research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: A transporter can reach the right place but still fail to carry its cargo.\norganism: Human SLC10A2\ntissue_or_cell_type: Ileal bile-acid transporter\nexperimental_model: Human family genetics and transfected COS-cell transport assays\nlimitations: Family-specific genetic disease; loss of bile-acid transport was tested, whereas individual fat-soluble-vitamin deficiencies were not.\nexposure: L243P, T262M and double-mutant constructs\nevidence_span: {\"source_cache\": \"artifacts/sodium-research/9109432.abstract.txt\", \"locator\": \"Exact primary indexed abstract; zero-based, end-exclusive Unicode character offsets\", \"file_sha256\": \"019508b2d05ec7e21a73ff66bdea9a0b09c6c7e7d8e404de3db49b2a0825ebbe\", \"start_char\": 0, \"end_char\": 1389, \"text_sha256\": \"019508b2d05ec7e21a73ff66bdea9a0b09c6c7e7d8e404de3db49b2a0825ebbe\"}\n[sodium-p9109432] Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). (1997). https://pubmed.ncbi.nlm.nih.gov/9109432/ DOI: 10.1172/jci119355","model_system":"Human family genetics and transfected COS-cell transport assays","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [sodium-p9109432] Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). (1997). https://pubmed.ncbi.nlm.nih.gov/9109432/ DOI: 10.1172/jci119355","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"c260cd7b-beb0-5113-a198-69ec8fd4492c","stable_key":"import-195e8b84-ca5a-591a-a045-c55c53c8a01c","title":"Sodium: gradients, nutrient transport, fluid regulation and loss states (2026-09-17)","document_type":"imported_text","citation_label":"AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text.","file_path":"","sha256":"684f65cf0661c18395831ade4b02bb24d5e66c568f0d00a3471600eaf5d4d1c6","revision_id":"39866f04-3052-5f59-bd95-6806c5490875","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}