{"id":"71b6f42f-dbf9-58ac-abfd-a453e36d5a88","stable_key":"c3df3634-4c3a-5099-a5d9-e4f6344c1084:slc7a7-lpi","predicate":"impairment_reduces","statement":"Pathogenic SLC7A7 variants impair epithelial dibasic-amino-acid transport in lysinuric protein intolerance.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"9a4f839d-ba28-50c6-8ec8-d294f893e531","mechanism_event_label":"A transport defect can limit lysine delivery despite its presence in food.","subject":{"id":"57fab5cc-28ef-5271-a0b2-fd26e0b8b6c8","slug":"slc7a7","display_name":"y+LAT1 / SLC7A7","entity_type_key":"protein"},"object":{"id":"bd20af05-b581-5d42-a8c4-c1523cf1026e","slug":"basolateral-lysine-export","display_name":"Basolateral lysine export","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"9a4f839d-ba28-50c6-8ec8-d294f893e531","stable_key":"c3df3634-4c3a-5099-a5d9-e4f6344c1084:slc7a7-lpi-event","event_type":"biochemical_relationship","label":"A transport defect can limit lysine delivery despite its presence in food.","description":"Pathogenic SLC7A7 variants impair epithelial dibasic-amino-acid transport in lysinuric protein intolerance.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"57fab5cc-28ef-5271-a0b2-fd26e0b8b6c8","slug":"slc7a7","display_name":"y+LAT1 / SLC7A7","entity_type_key":"protein"},"role":"impaired_machinery","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"5fff6664-209e-5c35-b88e-ac15c1c5fbc0","slug":"l-lysine","display_name":"L-Lysine","entity_type_key":"small_molecule"},"role":"affected_substrate","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"eeca3c9e-7749-5677-b7bd-37fe8f7c228d","slug":"arginine","display_name":"L-Arginine","entity_type_key":"small_molecule"},"role":"affected_substrate","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"c715e48e-42db-5fac-b4a4-c1285a68d085","slug":"ornithine","display_name":"L-Ornithine","entity_type_key":"small_molecule"},"role":"affected_substrate","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""},{"entity":{"id":"bd20af05-b581-5d42-a8c4-c1523cf1026e","slug":"basolateral-lysine-export","display_name":"Basolateral lysine export","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":4,"notes":""}]},"contexts":[{"dimension":"affected_machinery","value_text":"SLC7A7-containing transporter","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"deficiency_not_equivalent","value_text":"Dietary lysine deficiency","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human inherited disease genetics and transport characterization","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"A multiamino-acid transport disorder; systemic manifestations are not attributable solely to dietary lysine shortage.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"organism","value_text":"Homo sapiens","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"A transport defect can limit lysine delivery despite its presence in food.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[torrents1999] Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene (1999). https://www.nature.com/articles/ng0399_293 DOI: 10.1038/6809","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Intestinal and renal epithelial basolateral membranes","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":"2332e42e-f903-5fd8-b12f-2c8de71d7058","evidence_kind":"source_excerpt","locator":"Lines 218-228","start_line":218,"end_line":228,"excerpt":"### slc7a7-lpi\nPathogenic SLC7A7 variants impair epithelial dibasic-amino-acid transport in lysinuric protein intolerance.\nPlain language: A transport defect can limit lysine delivery despite its presence in food.\nCondition category: machinery_impairment\norganism: Homo sapiens\ntissue_or_cell_type: Intestinal and renal epithelial basolateral membranes\nexperimental_model: Human inherited disease genetics and transport characterization\nlimitations: A multiamino-acid transport disorder; systemic manifestations are not attributable solely to dietary lysine shortage.\naffected_machinery: SLC7A7-containing transporter\ndeficiency_not_equivalent: Dietary lysine deficiency\n[torrents1999] Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene (1999). https://www.nature.com/articles/ng0399_293 DOI: 10.1038/6809","model_system":"Human inherited disease genetics and transport characterization","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact quote from the accompanying curation document, not from publisher text. Original study references: [torrents1999] Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene (1999). https://www.nature.com/articles/ng0399_293 DOI: 10.1038/6809","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"7633bde7-dcc9-5086-91c6-a45eb96857f3","stable_key":"import-c3df3634-4c3a-5099-a5d9-e4f6344c1084","title":"L-Lysine: mechanism-first literature curation (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":"93998d47c21525409ba82f1c82ededf2893dff15fbe61c7deffc175b0e298e97","revision_id":"3897e31f-6624-59e1-a053-8a81b7361632","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}