Component
Human SLC26A7 truncating pathogenic variants
Set of homozygous truncating SLC26A7 variants in the six families reported by Cangul et al. 2018; not wild-type protein.
1 recorded relationships. Experimental role, claim status and evidence remain attached to each record.
How nutrients influence it
Every nutrient with a recorded effect on this component, credited to the nutrient that acted rather than the chapter that recorded it. Open a nutrient to see the findings and the conditions they were measured under.
Other things that act on it
Enzymes, hormones, genes, and other components with a recorded effect. These are not nutrients, so they do not count toward the arrows above. Each finding names the chapter that recorded it.
How nutrients reach it in more than one step
Chains of two or more recorded steps that end here, grouped by the nutrient they start from. Each step is a separate finding, so a chain is a route a mechanism could take, not proof that it does.
Tracing routes…
What it does
Every recorded relationship this component is part of, grouped by its role. Plain wording comes first; the technical statement follows.
What it acts on
Homozygous truncating SLC26A7 variants segregated with goitrous congenital hypothyroidism in six unrelated families studied by Cangul et al.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- cross_nutrient
- false
- experimental_model
- Six human families, human SLC26A7/NIS-transfected HEK293 cells, Slc26a7-null mice
- exposure
- Six families with 13 affected individuals; molecular genetic characterization.
- limitations
- Genetic association establishes a machinery disorder, not low dietary iodine; precise physiological transport mechanism remained unresolved.
- nutrient_topic
- Iodine research collection; topical membership is not evidence of a direct dietary effect. · Iodine
- organism
- Homo sapiens
- plain_language
- Inherited SLC26A7 defects can disrupt thyroid hormone production.
- primary_references
- [iodine-trans-slc26a7-2018] Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. (2018). https://pubmed.ncbi.nlm.nih.gov/30333321/ DOI: 10.1172/jci.insight.99631
- tissue_or_cell_type
- Thyroid and whole-person clinical phenotype
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Iodine: thyroid hormone production, deficiency, excess and nutrient interactions (2026-09-17) · lines 388–399
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Six human families, human SLC26A7/NIS-transfected HEK293 cells, Slc26a7-null mice · source_derived_draft · unverified_draft
### iodine-trans-a7-truncation-ch Homozygous truncating SLC26A7 variants segregated with goitrous congenital hypothyroidism in six unrelated families studied by Cangul et al. Condition category: machinery_impairment nutrient_topic: Iodine research collection; topical membership is not evidence of a direct dietary effect. plain_language: Inherited SLC26A7 defects can disrupt thyroid hormone production. organism: Homo sapiens tissue_or_cell_type: Thyroid and whole-person clinical phenotype experimental_model: Six human families, human SLC26A7/NIS-transfected HEK293 cells, Slc26a7-null mice limitations: Genetic association establishes a machinery disorder, not low dietary iodine; precise physiological transport mechanism remained unresolved. exposure: Six families with 13 affected individuals; molecular genetic characterization. cross_nutrient: false [iodine-trans-slc26a7-2018] Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. (2018). https://pubmed.ncbi.nlm.nih.gov/30333321/ DOI: 10.1172/jci.insight.99631
Complete structured claim and evidence
The events it takes part in
A mechanism often involves more than two components. These are the full events, with every participant and its role.
Situations it appears in
Low-supply and faulty-machinery situations recorded in the chapters where this component plays a part.
In the sources
Preserved passages that mention this component, quoted exactly. Open one to read it in context.
Open hypotheses
Proposed ideas that involve this component. They are labeled as hypotheses and do not change any recorded statement.
This is a research prototype built from draft material. It is not medical advice, and its statements still await verification against the original studies.