TTF-1/NKX2-1 Proteins and Enzymes

The thyroid transcription factor 1 (TTF-1) is a homeodomain-containing transcription factor that activates the transcriptional activity of thyroid-specific gene promoters by binding to them. Hence, TTF-1 is crucial in the maintenance of the thyroid differentiation phenotype (1). Thyroid dysgenesis (TD) is responsible for most cases of congenital hypothyroidism, a condition that affects about one in 4000 newborns. Mutations in PAX8, TTF1, or FOXE1 may account for congenital hypothyroidism in ...