{"id":"3ab76c10-3540-554f-8ff9-cd0a45973d1f","stable_key":"56f1d914-e7da-595a-af69-c217b2b47407:l-phenylalanine-pcbd-recycling-role","predicate":"participates_in_regeneration_of","statement":"PCBD1 has a pterin-carbinolamine dehydratase role in BH4 regeneration; biallelic defects are associated with transient neonatal hyperphenylalaninemia and primapterinuria.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"7c860022-8c9c-5950-a1bc-8d64fae5a638","mechanism_event_label":"One cofactor-recycling protein has another important job in the kidney.","subject":{"id":"a69cefc1-302d-5b87-8499-ecbe52b4059e","slug":"pcbd1","display_name":"Human pterin-4-alpha-carbinolamine dehydratase / PCBD1","entity_type_key":"protein"},"object":{"id":"1c231b90-c106-507a-8766-870ecb40e368","slug":"tetrahydrobiopterin","display_name":"Tetrahydrobiopterin / BH4","entity_type_key":"small_molecule"},"evidence_count":1,"mechanism_event":{"id":"7c860022-8c9c-5950-a1bc-8d64fae5a638","stable_key":"56f1d914-e7da-595a-af69-c217b2b47407:l-phenylalanine-pcbd-recycling-role-event","event_type":"observed_relationship","label":"One cofactor-recycling protein has another important job in the kidney.","description":"PCBD1 has a pterin-carbinolamine dehydratase role in BH4 regeneration; biallelic defects are associated with transient neonatal hyperphenylalaninemia and primapterinuria.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"a69cefc1-302d-5b87-8499-ecbe52b4059e","slug":"pcbd1","display_name":"Human pterin-4-alpha-carbinolamine dehydratase / PCBD1","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"1c231b90-c106-507a-8766-870ecb40e368","slug":"tetrahydrobiopterin","display_name":"Tetrahydrobiopterin / BH4","entity_type_key":"small_molecule"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"190407ad-0219-54b5-b05f-7c75f3895ca6","slug":"l-phenylalanine","display_name":"L-Phenylalanine","entity_type_key":"small_molecule"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"ea908671-6f85-5342-abe4-1a466a3b0572","slug":"pah","display_name":"Human phenylalanine hydroxylase / PAH","entity_type_key":"protein"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""}]},"contexts":[{"dimension":"evidence_access","value_text":"Primary abstract","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human PCBD1 mutation study; established biochemical role and disease background.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"The renal study does not directly measure whole-body BH4 recycling flux. The transcriptional role below is separately recorded.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"L-Phenylalanine collection; species, compartment, exposure, co-substrates and manipulation remain explicit.","comparator":null,"unit":null,"notes":"","entity":{"slug":"l-phenylalanine","display_name":"L-Phenylalanine","entity_type_key":"small_molecule"}},{"dimension":"plain_language","value_text":"One cofactor-recycling protein has another important job in the kidney.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. · 2014 · https://pubmed.ncbi.nlm.nih.gov/24204001/ · DOI 10.1681/ASN.2013040337","comparator":null,"unit":null,"notes":"","entity":null}],"evidence":[{"id":"02590985-8727-502f-8a58-4cee263dde7f","evidence_kind":"source_excerpt","locator":"Lines 62-68","start_line":62,"end_line":68,"excerpt":"## l-phenylalanine-pcbd-recycling-role\nOne cofactor-recycling protein has another important job in the kidney.\nPCBD1 has a pterin-carbinolamine dehydratase role in BH4 regeneration; biallelic defects are associated with transient neonatal hyperphenylalaninemia and primapterinuria.\nModel: Human PCBD1 mutation study; established biochemical role and disease background.\nLimitations: The renal study does not directly measure whole-body BH4 recycling flux. The transcriptional role below is separately recorded.\nEvidence access: Primary abstract\nMutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. · 2014 · https://pubmed.ncbi.nlm.nih.gov/24204001/ · DOI 10.1681/ASN.2013040337","model_system":"Human PCBD1 mutation study; established biochemical role and disease background.","directness":"reported_statement","verification_status":"source_derived_draft","notes":"Original curation paraphrase; evidence access and experimental limitations specified.","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"54de7c56-1e60-5d7b-8ef9-852c58ae92ba","stable_key":"import-56f1d914-e7da-595a-af69-c217b2b47407","title":"L-Phenylalanine: transport, protein synthesis, cofactor recycling and cross-nutrient mechanisms (2026-09-19)","document_type":"imported_text","citation_label":"AI-assisted research curation; primary references, access levels and experimental limitations individually identified. 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