{"id":"1ac20573-d78e-560c-a827-3a9f6c23b1de","stable_key":"aaa7baba-8689-56ab-ba1e-b71542bcb8e9:iodine-trans-a7-q500-current","predicate":"impairs","statement":"Human SLC26A7 Q500Ter did not produce the wild-type enhancement of iodide-dependent current and iodide-sensitive fluorescence responses in HEK293T cells.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"negative","is_public":true,"mechanism_event_id":"78d24480-8504-57e0-bc81-f3c04299d25f","mechanism_event_label":"The truncated transporter failed the functional iodide-transport tests.","subject":{"id":"d9c5391d-0dc9-5e17-9a41-1fdb2b77292c","slug":"slc26a7-q500ter","display_name":"Human SLC26A7 p.Gln500Ter","entity_type_key":"protein_state"},"object":{"id":"8a85e360-ec3f-5dd3-aef3-c52912de9201","slug":"slc26a7-iodide-conductance","display_name":"SLC26A7 iodide conductance","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"78d24480-8504-57e0-bc81-f3c04299d25f","stable_key":"aaa7baba-8689-56ab-ba1e-b71542bcb8e9:iodine-trans-a7-q500-current-event","event_type":"biochemical_relationship","label":"The truncated transporter failed the functional iodide-transport tests.","description":"Human SLC26A7 Q500Ter did not produce the wild-type enhancement of iodide-dependent current and iodide-sensitive fluorescence responses in HEK293T cells.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"6ae2ac42-e051-59b1-aabb-f8263f987ea4","slug":"slc26a7","display_name":"Human SLC26A7 anion transporter","entity_type_key":"protein"},"role":"wild_type_reference","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"83b11ca6-52c7-5a1b-8c39-d9cdf89244e3","slug":"iodide","display_name":"Iodide ion","entity_type_key":"ion"},"role":"assayed_substrate","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"d9c5391d-0dc9-5e17-9a41-1fdb2b77292c","slug":"slc26a7-q500ter","display_name":"Human SLC26A7 p.Gln500Ter","entity_type_key":"protein_state"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"8a85e360-ec3f-5dd3-aef3-c52912de9201","slug":"slc26a7-iodide-conductance","display_name":"SLC26A7 iodide conductance","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"cross_nutrient","value_text":"false","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human thyroid tissue; recombinant human SLC26A7 in Nthy, MDCK, COS-7 and HEK293T cells; two affected siblings","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Whole-cell electrophysiology and NaCl-to-NaI solution exchange; Figure 6; iodide-sensitive YFP readout.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"These high-ion expression assays do not measure a physiological thyroid efflux rate; direction is determined by the imposed gradients.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Iodine research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"iodine","display_name":"Iodine","entity_type_key":"nutrient_element"}},{"dimension":"organism","value_text":"Homo sapiens protein and HEK293T cells","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"The truncated transporter failed the functional iodide-transport tests.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[iodine-trans-slc26a7-2019] Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7. (2019). https://pubmed.ncbi.nlm.nih.gov/31372509/ DOI: 10.1038/s42003-019-0503-6","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Cell plasma membrane","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":"f27208f3-1ae0-5f32-b87d-33fc896b7a1a","evidence_kind":"source_excerpt","locator":"Lines 362-373","start_line":362,"end_line":373,"excerpt":"### iodine-trans-a7-q500-current\nHuman SLC26A7 Q500Ter did not produce the wild-type enhancement of iodide-dependent current and iodide-sensitive fluorescence responses in HEK293T cells.\nCondition category: machinery_impairment\nnutrient_topic: Iodine research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: The truncated transporter failed the functional iodide-transport tests.\norganism: Homo sapiens protein and HEK293T cells\ntissue_or_cell_type: Cell plasma membrane\nexperimental_model: Human thyroid tissue; recombinant human SLC26A7 in Nthy, MDCK, COS-7 and HEK293T cells; two affected siblings\nlimitations: These high-ion expression assays do not measure a physiological thyroid efflux rate; direction is determined by the imposed gradients.\nexposure: Whole-cell electrophysiology and NaCl-to-NaI solution exchange; Figure 6; iodide-sensitive YFP readout.\ncross_nutrient: false\n[iodine-trans-slc26a7-2019] Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7. (2019). https://pubmed.ncbi.nlm.nih.gov/31372509/ DOI: 10.1038/s42003-019-0503-6","model_system":"Human thyroid tissue; recombinant human SLC26A7 in Nthy, MDCK, COS-7 and HEK293T cells; two affected siblings","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [iodine-trans-slc26a7-2019] Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7. (2019). https://pubmed.ncbi.nlm.nih.gov/31372509/ DOI: 10.1038/s42003-019-0503-6","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"76da623d-a34a-5a5c-a942-d7571a85c486","stable_key":"import-aaa7baba-8689-56ab-ba1e-b71542bcb8e9","title":"Iodine: thyroid hormone production, deficiency, excess and nutrient interactions (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":"a4885eb6f58bad4a4514c958b63834619e57b10aa7f694aa97d0f65c7d36548f","revision_id":"ea8001a1-b576-5eda-a193-883c7ad59b73","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}