{"id":"a6b4f56c-3c79-52cc-8bff-965db9897c17","stable_key":"1acdb1e8-2159-5c7f-b39f-0153ff8024ae:taurine-taut-retina","predicate":"biallelic_variant_associated_with","statement":"The two brothers carrying homozygous SLC6A6 p.Ala78Glu had panretinal degeneration and markedly reduced taurine in plasma, muscle and brain.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"b842e313-ddc3-51aa-8567-9791f0af48a9","mechanism_event_label":"Transport failure affected taurine availability in multiple compartments.","subject":{"id":"c00b89ac-1c32-5d7d-aec4-490af879460a","slug":"slc6a6","display_name":"Human taurine transporter / SLC6A6","entity_type_key":"protein"},"object":{"id":"88070df2-4a72-5e0c-8af3-2def7b95e85a","slug":"human-taurine-retinal-degeneration","display_name":"Retinal degeneration in human SLC6A6 deficiency","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"b842e313-ddc3-51aa-8567-9791f0af48a9","stable_key":"1acdb1e8-2159-5c7f-b39f-0153ff8024ae:taurine-taut-retina-event","event_type":"observed_relationship","label":"Transport failure affected taurine availability in multiple compartments.","description":"The two brothers carrying homozygous SLC6A6 p.Ala78Glu had panretinal degeneration and markedly reduced taurine in plasma, muscle and brain.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"c00b89ac-1c32-5d7d-aec4-490af879460a","slug":"slc6a6","display_name":"Human taurine transporter / SLC6A6","entity_type_key":"protein"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"88070df2-4a72-5e0c-8af3-2def7b95e85a","slug":"human-taurine-retinal-degeneration","display_name":"Retinal degeneration in human SLC6A6 deficiency","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"e423cd36-f183-522b-a5e4-5f9ef50eee7e","slug":"taurine","display_name":"Taurine","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":"Rare human family; retinal examinations and in-vivo spectroscopy.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Absence of extraocular clinical signs at that time does not mean every organ was unaffected.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Taurine collection; molecular form, preparation, species, exposure and manipulation remain explicit.","comparator":null,"unit":null,"notes":"","entity":{"slug":"taurine","display_name":"Taurine","entity_type_key":"small_molecule"}},{"dimension":"plain_language","value_text":"Transport failure affected taurine availability in multiple compartments.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. · 2019 · https://pubmed.ncbi.nlm.nih.gov/31345061/ · DOI 10.1096/fj.201900914RR","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":"7ee41729-66db-57cd-bb8d-15226cdf584e","evidence_kind":"source_excerpt","locator":"Lines 153-159","start_line":153,"end_line":159,"excerpt":"## taurine-taut-retina\nTransport failure affected taurine availability in multiple compartments.\nThe two brothers carrying homozygous SLC6A6 p.Ala78Glu had panretinal degeneration and markedly reduced taurine in plasma, muscle and brain.\nModel: Rare human family; retinal examinations and in-vivo spectroscopy.\nLimitations: Absence of extraocular clinical signs at that time does not mean every organ was unaffected.\nEvidence access: Primary abstract\nBiallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. · 2019 · https://pubmed.ncbi.nlm.nih.gov/31345061/ · DOI 10.1096/fj.201900914RR","model_system":"Rare human family; retinal examinations and in-vivo spectroscopy.","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":"dc8d9ab8-fdf9-5107-877c-336cf8005097","stable_key":"import-1acdb1e8-2159-5c7f-b39f-0153ff8024ae","title":"Taurine: synthesis, transport, mitochondrial decoding and nutrient interactions (2026-09-19)","document_type":"imported_text","citation_label":"AI-assisted research curation; primary-abstract references and experimental limitations individually identified. Not publisher full text.","file_path":"","sha256":"c6cb77619a374d9b1b04830032fdd3b33d269d160df5baba3778fad5adf57db5","revision_id":"cc45c491-cc6a-5426-ab72-d7c6d26c3614","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}