NKX2 1
Description
The NKX2-1 gene, also known as thyroid transcription factor 1 (TTF-1), is a crucial player in the development and function of the thyroid gland. It encodes a transcription factor that binds to specific DNA sequences, activating or repressing the expression of genes involved in thyroid cell differentiation, growth, and hormone production. Mutations in NKX2-1 can lead to various thyroid disorders, highlighting its critical role in thyroid health.
Associated Diseases
- Congenital hypothyroidism
- Thyroid cancer (papillary, follicular, and medullary)
- Thyroid dysgenesis
- Branchio-oto-renal syndrome
Did you know?
NKX2-1 is also expressed in the central nervous system, specifically in the lung and pituitary gland, suggesting its involvement in other developmental processes.