{"id":"ed3f627e-d422-53ca-a907-4de483e4556d","stable_key":"6cdb37aa-8998-5ea8-829d-4f995caf98fc:l-carnitine-octn2-loss","predicate":"loss_reduces","statement":"Fibroblasts carrying truncating OCTN2 variants from two unrelated patients lacked mediated carnitine transport.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"7e37aba3-bdc4-5684-a944-4c15b3a1c639","mechanism_event_label":"A broken cell-entry mechanism can produce primary carnitine deficiency.","subject":{"id":"fb9ae9da-e4d3-5557-baac-d8b00e98ba10","slug":"slc22a5","display_name":"Human carnitine transporter OCTN2 / SLC22A5","entity_type_key":"protein"},"object":{"id":"fd75340e-64d1-5b7b-91a0-6edaab997a25","slug":"human-octn2-transport-activity","display_name":"Human OCTN2-mediated cellular carnitine transport","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"7e37aba3-bdc4-5684-a944-4c15b3a1c639","stable_key":"6cdb37aa-8998-5ea8-829d-4f995caf98fc:l-carnitine-octn2-loss-event","event_type":"observed_relationship","label":"A broken cell-entry mechanism can produce primary carnitine deficiency.","description":"Fibroblasts carrying truncating OCTN2 variants from two unrelated patients lacked mediated carnitine transport.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"fb9ae9da-e4d3-5557-baac-d8b00e98ba10","slug":"slc22a5","display_name":"Human carnitine transporter OCTN2 / SLC22A5","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"fd75340e-64d1-5b7b-91a0-6edaab997a25","slug":"human-octn2-transport-activity","display_name":"Human OCTN2-mediated cellular carnitine transport","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"6e34c035-9371-578f-b799-fd2a14e9e40f","slug":"l-carnitine","display_name":"L-Carnitine","entity_type_key":"small_molecule"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence_access","value_text":"Primary abstract","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human primary-carnitine-deficiency patient fibroblasts and variant expression.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Genetic transport failure differs from low dietary intake.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"L-Carnitine collection; isomer, preparation, species, exposure and manipulation remain explicit.","comparator":null,"unit":null,"notes":"","entity":{"slug":"l-carnitine","display_name":"L-Carnitine","entity_type_key":"small_molecule"}},{"dimension":"plain_language","value_text":"A broken cell-entry mechanism can produce primary carnitine deficiency.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency. · 1999 · https://pubmed.ncbi.nlm.nih.gov/10051646/ · DOI 10.1073/pnas.96.5.2356","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":"a0d25e24-ddd0-56a3-b6ac-d77d1d03f538","evidence_kind":"source_excerpt","locator":"Lines 66-72","start_line":66,"end_line":72,"excerpt":"## l-carnitine-octn2-loss\nA broken cell-entry mechanism can produce primary carnitine deficiency.\nFibroblasts carrying truncating OCTN2 variants from two unrelated patients lacked mediated carnitine transport.\nModel: Human primary-carnitine-deficiency patient fibroblasts and variant expression.\nLimitations: Genetic transport failure differs from low dietary intake.\nEvidence access: Primary abstract\nMutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency. · 1999 · https://pubmed.ncbi.nlm.nih.gov/10051646/ · DOI 10.1073/pnas.96.5.2356","model_system":"Human primary-carnitine-deficiency patient fibroblasts and variant expression.","directness":"reported_statement","verification_status":"source_derived_draft","notes":"Original curation paraphrase; evidence access and experimental limitations specified.","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"e2c9c42b-806a-55e2-abde-b0320ea94704","stable_key":"import-6cdb37aa-8998-5ea8-829d-4f995caf98fc","title":"L-Carnitine: synthesis, acyl-group transport, fuel selection and nutrient interactions (2026-09-19)","document_type":"imported_text","citation_label":"AI-assisted research curation; 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