{"id":"f3ac57d4-6c00-5e14-a38c-754582efc615","stable_key":"availability:secisbp2-machinery-defect:2","predicate":"is_associated_with_changes_in_when_deficient","statement":"Human SECISBP2 deficiency is associated with an abnormal thyroid-hormone profile.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"source_reported: Human genetic disease and biochemical mechanism as reported in the supplied source; unverified synthesis.","direction":"context_dependent","is_public":true,"mechanism_event_id":"4ee48a87-61f6-5bfe-85e1-2b4778e01fac","mechanism_event_label":"Human SECISBP2 deficiency is associated with an abnormal thyroid-hormone profile.","subject":{"id":"3a7052da-9a94-5590-af38-341fafc3dbce","slug":"secisbp2","display_name":"SECISBP2 / SBP2","entity_type_key":"protein"},"object":{"id":"cb036857-cb52-50d7-b656-9ca2a3cf98a0","slug":"thyroid-hormone-metabolism","display_name":"Local thyroid-hormone metabolism","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"4ee48a87-61f6-5bfe-85e1-2b4778e01fac","stable_key":"availability:secisbp2-machinery-defect:2","event_type":"availability_dependent_change","label":"Human SECISBP2 deficiency is associated with an abnormal thyroid-hormone profile.","description":"Rare genetic SECISBP2 deficiency, distinct from inadequate dietary selenium. Rare human genetic disorder and biochemical role of SECIS-dependent recoding.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"3a7052da-9a94-5590-af38-341fafc3dbce","slug":"secisbp2","display_name":"SECISBP2 / SBP2","entity_type_key":"protein"},"role":"condition_input","stoichiometry":null,"state_label":"Rare genetic SECISBP2 deficiency, distinct from inadequate dietary selenium.","sequence_order":0,"notes":""},{"entity":{"id":"cb036857-cb52-50d7-b656-9ca2a3cf98a0","slug":"thyroid-hormone-metabolism","display_name":"Local thyroid-hormone metabolism","entity_type_key":"cellular_process"},"role":"affected_component","stoichiometry":null,"state_label":"Rare genetic SECISBP2 deficiency, distinct from inadequate dietary selenium.","sequence_order":1,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"Rare genetic SECISBP2 deficiency, distinct from inadequate dietary selenium.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_scope","value_text":"Rare human genetic disorder and biochemical role of SECIS-dependent recoding.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Growth, muscle, and reproductive findings in genetic disease are not direct phenocopies of ordinary dietary deficiency. Adequate intake does not define machinery function.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"","entity":null}],"evidence":[{"id":"97fede1f-8bb3-5dbf-bccc-1696bdd3754d","evidence_kind":"source_passage","locator":"lines 505-509","start_line":505,"end_line":509,"excerpt":"SECISBP2 (SBP2)\n\nSECISBP2 deficiency\n\nAbnormal thyroid-hormone profile, growth and muscle phenotypes, male infertility and other multisystem effects","model_system":"Supplied reference; verify the primary study and experimental context.","directness":"reported_statement","verification_status":"source_derived_draft","notes":"","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"c788c19c-884c-5233-92b1-0bd063d87741","stable_key":"deficiency","title":"Selenium deficiency: a mechanism-first reference","document_type":"user_supplied_reference","citation_label":"Supplied selenium deficiency reference","file_path":"X:\\metabolic-ledger\\source_material\\selenium-deficiency-reference.md","sha256":"a3f14bc3fa24c595dda830664523090a7b5bfa76e9dcf517f42f62212ceb767e","revision_id":"f8f97804-c1fb-56df-9c06-c02e36e2a5b8","review_status":"unverified_draft","notes":"Preserved verbatim. Reported study types are source labels, not independent verification."}}],"relations":[],"conflicts":[],"corrections":[],"research":null}