NKX2-1
Endocrine System · Thyroid Hormone Synthesis & Action
Why could one gene connect thyroid, lung, and brain problems?
NKX2-1 directs gene activity during the development and function of the thyroid, lungs, and brain. Because all three tissues use this regulator, a disease-causing change can have effects across those organs.
- Common Gene Name
- NK2 homeobox 1
- NCBI Gene ID
- 7080
- Chromosome
- 14
Clinical Evidence Status
Established disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (2 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2023-07-27 |
| Brain-lung-thyroid syndrome | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2017-01 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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