{"id":"2f2f58df-8d40-5b18-9b80-c292224a8069","stable_key":"507ed066-fd6d-5722-9223-97b66302e7e3:glycine-renal-pat2","predicate":"supports","statement":"Inheritance and functional studies in seven families implicated nonfunctional SLC36A2 alleles in urinary glycine and imino-acid loss; two defective alleles tracked iminoglycinuria and one tracked hyperglycinuria.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"967d487a-96a2-5492-b48b-13004558ee53","mechanism_event_label":"The kidney can lose glycine because its recovery transporter is faulty.","subject":{"id":"eb609e88-d268-57c6-beb9-022fee940c19","slug":"slc36a2","display_name":"Human proton-coupled amino acid transporter 2 / SLC36A2","entity_type_key":"protein"},"object":{"id":"854ca1bc-e427-52b8-94b8-03db0d04e373","slug":"human-renal-glycine-imino-reabsorption","display_name":"Human renal glycine and imino-acid reabsorption","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"967d487a-96a2-5492-b48b-13004558ee53","stable_key":"507ed066-fd6d-5722-9223-97b66302e7e3:glycine-renal-pat2-event","event_type":"observed_relationship","label":"The kidney can lose glycine because its recovery transporter is faulty.","description":"Inheritance and functional studies in seven families implicated nonfunctional SLC36A2 alleles in urinary glycine and imino-acid loss; two defective alleles tracked iminoglycinuria and one tracked hyperglycinuria.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"eb609e88-d268-57c6-beb9-022fee940c19","slug":"slc36a2","display_name":"Human proton-coupled amino acid transporter 2 / SLC36A2","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"854ca1bc-e427-52b8-94b8-03db0d04e373","slug":"human-renal-glycine-imino-reabsorption","display_name":"Human renal glycine and imino-acid reabsorption","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"2b507258-430c-51fe-9fd2-e510c2c197a9","slug":"glycine","display_name":"Glycine","entity_type_key":"small_molecule"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence_access","value_text":"Primary abstract","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human family genetics with functional transporter testing.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"This is renal handling; urinary loss alone does not establish systemic nutritional deficiency.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Glycine collection; species, compartment, exposure, co-substrates and manipulation remain explicit.","comparator":null,"unit":null,"notes":"","entity":{"slug":"glycine","display_name":"Glycine","entity_type_key":"small_molecule"}},{"dimension":"plain_language","value_text":"The kidney can lose glycine because its recovery transporter is faulty.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. · 2008 · https://pubmed.ncbi.nlm.nih.gov/19033659/ · DOI 10.1172/JCI36625","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":"6b74a91c-66b1-552f-8569-eab5e9706c8f","evidence_kind":"source_excerpt","locator":"Lines 66-72","start_line":66,"end_line":72,"excerpt":"## glycine-renal-pat2\nThe kidney can lose glycine because its recovery transporter is faulty.\nInheritance and functional studies in seven families implicated nonfunctional SLC36A2 alleles in urinary glycine and imino-acid loss; two defective alleles tracked iminoglycinuria and one tracked hyperglycinuria.\nModel: Human family genetics with functional transporter testing.\nLimitations: This is renal handling; urinary loss alone does not establish systemic nutritional deficiency.\nEvidence access: Primary abstract\nIminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. · 2008 · https://pubmed.ncbi.nlm.nih.gov/19033659/ · DOI 10.1172/JCI36625","model_system":"Human family genetics with functional transporter testing.","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":"7b2859d8-e2bf-51e7-8e32-0715c10cbc49","stable_key":"import-507ed066-fd6d-5722-9223-97b66302e7e3","title":"Glycine: supply, one-carbon allocation, receptors 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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