{"id":"7b1f3976-8ac8-5309-87d2-25bfb1af69cb","stable_key":"7fc92b9e-9cbf-556e-8719-6b5244625250:b12-abs-cubn-genetic-malabsorption","predicate":"impairs","statement":"Mapping and sequencing identified two independent disease-specific CUBN mutations across 17 Finnish families with selective intestinal cobalamin malabsorption.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"negative","is_public":true,"mechanism_event_id":"a2e44498-e40d-5a2b-97ad-97b2bf3e1a42","mechanism_event_label":"Inherited cubilin defects can block B12 absorption.","subject":{"id":"738cbfb8-91b0-58ce-8267-4c846a48038d","slug":"human-cubn-disease-genotypes","display_name":"Human biallelic CUBN disease genotypes in Aminoff 1999","entity_type_key":"gene"},"object":{"id":"8c0f397a-9cad-554f-ac5b-bb51bf1be2ac","slug":"intestinal-cobalamin-absorption","display_name":"Intestinal cobalamin absorption","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"a2e44498-e40d-5a2b-97ad-97b2bf3e1a42","stable_key":"7fc92b9e-9cbf-556e-8719-6b5244625250:b12-abs-cubn-genetic-malabsorption-event","event_type":"observed_intervention","label":"Inherited cubilin defects can block B12 absorption.","description":"Mapping and sequencing identified two independent disease-specific CUBN mutations across 17 Finnish families with selective intestinal cobalamin malabsorption.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"b6d9b937-895d-5e0a-8cc5-0454a0b7d373","slug":"vitamin-b12","display_name":"Vitamin B12 (cobalamins)","entity_type_key":"chemical_species"},"role":"nutrient","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"7a3dab53-fbcd-58da-9942-21f1a3ed088d","slug":"cubn","display_name":"Human cubilin / CUBN","entity_type_key":"protein"},"role":"encoded-protein","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"738cbfb8-91b0-58ce-8267-4c846a48038d","slug":"human-cubn-disease-genotypes","display_name":"Human biallelic CUBN disease genotypes in Aminoff 1999","entity_type_key":"gene"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"8c0f397a-9cad-554f-ac5b-bb51bf1be2ac","slug":"intestinal-cobalamin-absorption","display_name":"Intestinal cobalamin absorption","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"cross_nutrient","value_text":"false","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"17 Finnish MGA1 families; linkage and molecular analysis","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Inherited biallelic CUBN disease genotypes","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Family-genetic evidence; allele-specific biochemical steps require separate functional experiments.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Vitamin B12 research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"vitamin-b12","display_name":"Vitamin B12 (cobalamins)","entity_type_key":"chemical_species"}},{"dimension":"organism","value_text":"Homo sapiens","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"Inherited cubilin defects can block B12 absorption.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[aminoff-1999-cubn] Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. (1999). https://pubmed.ncbi.nlm.nih.gov/10080186/ DOI: 10.1038/6831","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Small-intestinal absorption","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":"85b1f743-0711-50c9-8c7c-8f88ce5d2e5d","evidence_kind":"source_excerpt","locator":"Lines 283-294","start_line":283,"end_line":294,"excerpt":"### b12-abs-cubn-genetic-malabsorption\nMapping and sequencing identified two independent disease-specific CUBN mutations across 17 Finnish families with selective intestinal cobalamin malabsorption.\nCondition category: machinery_impairment\nnutrient_topic: Vitamin B12 research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: Inherited cubilin defects can block B12 absorption.\norganism: Homo sapiens\ntissue_or_cell_type: Small-intestinal absorption\nexperimental_model: 17 Finnish MGA1 families; linkage and molecular analysis\nlimitations: Family-genetic evidence; allele-specific biochemical steps require separate functional experiments.\nexposure: Inherited biallelic CUBN disease genotypes\ncross_nutrient: false\n[aminoff-1999-cubn] Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. (1999). https://pubmed.ncbi.nlm.nih.gov/10080186/ DOI: 10.1038/6831","model_system":"17 Finnish MGA1 families; linkage and molecular analysis","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [aminoff-1999-cubn] Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. (1999). https://pubmed.ncbi.nlm.nih.gov/10080186/ DOI: 10.1038/6831","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"73145023-2982-5848-aff2-8d8875d6b9c5","stable_key":"import-7fc92b9e-9cbf-556e-8719-6b5244625250","title":"Vitamin B12: 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. 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