{"id":"4eac0041-75c3-5651-ab83-2afa41da4f7b","stable_key":"548ab9d6-3a9b-5bed-879c-17d03813b636:transport-slc52a2-l339p-uptake","predicate":"reduces","statement":"SLC52A2 L339P variant decreased radiolabeled-riboflavin uptake compared with wild-type RFVT2 in transfected HEK293 cells.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"negative","is_public":true,"mechanism_event_id":"ddf61295-760b-5e0f-a5a2-3ea50c60af06","mechanism_event_label":"The disease-associated transporter variant imports less riboflavin.","subject":{"id":"ac119507-638f-58bd-9065-2049162d8b10","slug":"slc52a2-l339p","display_name":"SLC52A2 L339P variant","entity_type_key":"protein_state"},"object":{"id":"4d513cb9-67ef-53b3-bf96-b35813191439","slug":"cellular-riboflavin-uptake","display_name":"Cellular riboflavin uptake","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"ddf61295-760b-5e0f-a5a2-3ea50c60af06","stable_key":"548ab9d6-3a9b-5bed-879c-17d03813b636:transport-slc52a2-l339p-uptake-event","event_type":"biochemical_relationship","label":"The disease-associated transporter variant imports less riboflavin.","description":"SLC52A2 L339P variant decreased radiolabeled-riboflavin uptake compared with wild-type RFVT2 in transfected HEK293 cells.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"ac119507-638f-58bd-9065-2049162d8b10","slug":"slc52a2-l339p","display_name":"SLC52A2 L339P variant","entity_type_key":"protein_state"},"role":"variant-transporter","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"86eb1eee-a8d1-539c-8c17-0911f69b6f1b","slug":"riboflavin","display_name":"Riboflavin (vitamin B2)","entity_type_key":"small_molecule"},"role":"substrate","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"4d513cb9-67ef-53b3-bf96-b35813191439","slug":"cellular-riboflavin-uptake","display_name":"Cellular riboflavin uptake","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; 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Study references: [transport-slc52a2-disease-2012] Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome (2012). https://pmc.ncbi.nlm.nih.gov/articles/PMC3470687/ DOI: 10.1007/s10545-012-9513-y","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"4f7c9578-82bf-5e2d-b5c4-72a79fb4f6af","stable_key":"import-548ab9d6-3a9b-5bed-879c-17d03813b636","title":"Riboflavin: mechanisms, deficiency 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. Not publisher full text.","file_path":"","sha256":"680cb6bc8249877f2410f551807f10d390fdd719014137d7414ba3420e29228d","revision_id":"7a61e299-908d-5372-860b-99ed190f9d7a","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}