Component
Human DUOX2 truncating variant proteins studied in 2002
Study-specific variant set; not wild-type DUOX2 and not a universal genotype prognosis.
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
A homozygous truncating DUOX2 mutation accompanied a complete iodide-organification defect in the severe permanent case in the 2002 series.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- cross_nutrient
- false
- evidence_span
- {"source_cache": "artifacts/iodine-synthesis-sources/12110737.json", "json_field": "abstractText", "text_sha256": "a0fa87eb7c584eb2b54cdc1de43ef65dd31bb4b7300f06c5b9ff4a8f703a151e", "text_characters": 1953, "note": "Exact publisher passage retained in the cited local source cache; locator and digest supplied here."}
- experimental_model
- Sequencing of nine newborn-screened patients with iodide-organification defects and their relatives
- exposure
- Inherited DUOX2 truncation; no imposed dietary iodine restriction.
- limitations
- Small selected genetic series; no universal genotype-to-prognosis rule.
- nutrient_topic
- Iodine research collection; topical membership is not evidence of a direct dietary effect. · Iodine
- organism
- Homo sapiens
- plain_language
- A broken peroxide generator can prevent iodine from being incorporated into thyroid proteins.
- primary_references
- [iodine-syn-duox2002] Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. (2002). https://pubmed.ncbi.nlm.nih.gov/12110737/ DOI: 10.1056/nejmoa012752
- tissue_or_cell_type
- Thyroid
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
Iodine: thyroid hormone production, deficiency, excess and nutrient interactions (2026-09-17) · lines 520–532
AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text. · supports · Sequencing of nine newborn-screened patients with iodide-organification defects and their relatives · source_derived_draft · unverified_draft
### iodine-syn-duox2-organification A homozygous truncating DUOX2 mutation accompanied a complete iodide-organification defect in the severe permanent case in the 2002 series. Condition category: machinery_impairment nutrient_topic: Iodine research collection; topical membership is not evidence of a direct dietary effect. plain_language: A broken peroxide generator can prevent iodine from being incorporated into thyroid proteins. organism: Homo sapiens tissue_or_cell_type: Thyroid experimental_model: Sequencing of nine newborn-screened patients with iodide-organification defects and their relatives limitations: Small selected genetic series; no universal genotype-to-prognosis rule. exposure: Inherited DUOX2 truncation; no imposed dietary iodine restriction. cross_nutrient: false evidence_span: {"source_cache": "artifacts/iodine-synthesis-sources/12110737.json", "json_field": "abstractText", "text_sha256": "a0fa87eb7c584eb2b54cdc1de43ef65dd31bb4b7300f06c5b9ff4a8f703a151e", "text_characters": 1953, "note": "Exact publisher passage retained in the cited local source cache; locator and digest supplied here."} [iodine-syn-duox2002] Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. (2002). https://pubmed.ncbi.nlm.nih.gov/12110737/ DOI: 10.1056/nejmoa012752
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.