{"id":"3af90d2e-847e-5a62-9004-8d8ae3678672","stable_key":"availability:secisbp2-machinery-defect:1","predicate":"can_impair_when_deficient","statement":"SECISBP2 deficiency compromises a required component of SECIS-dependent selenocysteine decoding.","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":"negative","is_public":true,"mechanism_event_id":"09f45f70-f3fd-55b7-81d4-83b1b1ef26c0","mechanism_event_label":"SECISBP2 deficiency compromises a required component of SECIS-dependent selenocysteine decoding.","subject":{"id":"3a7052da-9a94-5590-af38-341fafc3dbce","slug":"secisbp2","display_name":"SECISBP2 / SBP2","entity_type_key":"protein"},"object":{"id":"f71fba83-929f-5773-81f5-1796d8e5a369","slug":"uga-recoding","display_name":"UGA recoding","entity_type_key":"cellular_process"},"evidence_count":3,"mechanism_event":{"id":"09f45f70-f3fd-55b7-81d4-83b1b1ef26c0","stable_key":"availability:secisbp2-machinery-defect:1","event_type":"availability_dependent_change","label":"SECISBP2 deficiency compromises a required component of SECIS-dependent selenocysteine decoding.","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":"f71fba83-929f-5773-81f5-1796d8e5a369","slug":"uga-recoding","display_name":"UGA recoding","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":"25768f4d-2c73-5267-b5cd-4dad5a659189","evidence_kind":"source_passage","locator":"lines 35-41","start_line":35,"end_line":41,"excerpt":"                                   Sec-tRNA^[Ser]Sec\n                                           ↓ eEFSec\n                              ribosome reaches UGA\n                                           ↓\n                        SECIS + SECISBP2/SBP2 machinery\n                                           ↓\n                              SELENOCYSTEINE INSERTED","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."}},{"id":"0711b545-4e63-5050-9f49-4d1e2cc3b909","evidence_kind":"source_passage","locator":"lines 83-83","start_line":83,"end_line":83,"excerpt":"Layer 2 — SECIS-dependent translation. SECIS structure, SECISBP2/SBP2 interactions, eEFSec, ribosomal context, and other RNA-binding proteins influence recoding efficiency.","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."}},{"id":"19cd0b14-588d-5300-b16f-7b9b151a144d","evidence_kind":"source_passage","locator":"lines 497-509","start_line":497,"end_line":509,"excerpt":"Rare genetic disorders help show what happens when parts of selenoprotein biology fail despite adequate dietary selenium.\n\nGene / protein\n\nDisorder or molecular role\n\nSelected phenotype / implication\n\nSECISBP2 (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}