{"id":"561c9e9e-7f5a-54b3-a6ae-2e66d64569d8","stable_key":"dff9f743-3766-5f20-a71e-d6d2bd5bfb6f:a-vision-rdh5-mutant-activity","predicate":"reduce","statement":"RDH5 variants segregating with fundus albipunctatus showed lower recombinant enzyme activity than wild type.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"negative","is_public":true,"mechanism_event_id":"99117e8d-0d05-5426-ae30-4122f5afab81","mechanism_event_label":"The inherited protein changes weaken the recycling reaction.","subject":{"id":"75d0fcbe-41ff-571b-9e8c-478f8a0bb070","slug":"rdh5-pathogenic-variants","display_name":"Pathogenic RDH5 variants","entity_type_key":"protein_state"},"object":{"id":"fec3fe5d-a187-5e6e-bc11-86ad2743a893","slug":"rdh5","display_name":"11-cis-retinol dehydrogenase / RDH5","entity_type_key":"protein"},"evidence_count":1,"mechanism_event":{"id":"99117e8d-0d05-5426-ae30-4122f5afab81","stable_key":"dff9f743-3766-5f20-a71e-d6d2bd5bfb6f:a-vision-rdh5-mutant-activity-event","event_type":"biochemical_relationship","label":"The inherited protein changes weaken the recycling reaction.","description":"RDH5 variants segregating with fundus albipunctatus showed lower recombinant enzyme activity than wild type.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"75d0fcbe-41ff-571b-9e8c-478f8a0bb070","slug":"rdh5-pathogenic-variants","display_name":"Pathogenic RDH5 variants","entity_type_key":"protein_state"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"fec3fe5d-a187-5e6e-bc11-86ad2743a893","slug":"rdh5","display_name":"11-cis-retinol dehydrogenase / RDH5","entity_type_key":"protein"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"experimental_model","value_text":"Patient genetics and recombinant enzyme assay","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Variants were evaluated in a small number of families.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Vitamin A research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"vitamin-a","display_name":"Vitamin A","entity_type_key":"chemical_species"}},{"dimension":"organism","value_text":"Homo sapiens","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"The inherited protein changes weaken the recycling reaction.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[yamamoto-1999] Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus (1999). https://pubmed.ncbi.nlm.nih.gov/10369264/ DOI: 10.1038/9707","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"RPE enzyme model","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":"84b653c0-3f62-57b6-a1d0-1d2fb685f8fb","evidence_kind":"source_excerpt","locator":"Lines 734-743","start_line":734,"end_line":743,"excerpt":"### a-vision-rdh5-mutant-activity\nRDH5 variants segregating with fundus albipunctatus showed lower recombinant enzyme activity than wild type.\nCondition category: machinery_impairment\nnutrient_topic: Vitamin A research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: The inherited protein changes weaken the recycling reaction.\norganism: Homo sapiens\ntissue_or_cell_type: RPE enzyme model\nexperimental_model: Patient genetics and recombinant enzyme assay\nlimitations: Variants were evaluated in a small number of families.\n[yamamoto-1999] Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus (1999). https://pubmed.ncbi.nlm.nih.gov/10369264/ DOI: 10.1038/9707","model_system":"Patient genetics and recombinant enzyme assay","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [yamamoto-1999] Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus (1999). https://pubmed.ncbi.nlm.nih.gov/10369264/ DOI: 10.1038/9707","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"0c5474e2-be48-547b-b287-9c07a59c9ff1","stable_key":"import-dff9f743-3766-5f20-a71e-d6d2bd5bfb6f","title":"Vitamin A: forms, mechanisms, deficiency and excess (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":"b217224b262abbd77d6a0c8c9beefff9c022fae4d31e2a5273915d769b9a6546","revision_id":"61008909-871f-575c-b5e2-21542689ea3c","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}