{"id":"11939425-e23d-51b1-9817-a43634b93338","stable_key":"56f1d914-e7da-595a-af69-c217b2b47407:l-phenylalanine-dnaj-failure","predicate":"when_defective_impairs","statement":"Biallelic DNAJC12 variants in six patients from four families accompanied hyperphenylalaninemia and neurotransmitter abnormalities; functional studies found reduced PAH activity.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"negative","is_public":true,"mechanism_event_id":"12180dfc-a2b2-5eed-8ca2-1db6d8cbd98b","mechanism_event_label":"Phenylalanine can accumulate because its supporting machinery is defective.","subject":{"id":"2ea64351-1d24-5e9d-9682-1f81f869f479","slug":"dnajc12","display_name":"Human chaperone DNAJC12","entity_type_key":"protein"},"object":{"id":"ea908671-6f85-5342-abe4-1a466a3b0572","slug":"pah","display_name":"Human phenylalanine hydroxylase / PAH","entity_type_key":"protein"},"evidence_count":1,"mechanism_event":{"id":"12180dfc-a2b2-5eed-8ca2-1db6d8cbd98b","stable_key":"56f1d914-e7da-595a-af69-c217b2b47407:l-phenylalanine-dnaj-failure-event","event_type":"observed_relationship","label":"Phenylalanine can accumulate because its supporting machinery is defective.","description":"Biallelic DNAJC12 variants in six patients from four families accompanied hyperphenylalaninemia and neurotransmitter abnormalities; 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