NK2 homeobox 1 (NKX2-1), also known as thyroid transcription factor 1 (TTF-1), is a protein which in humans is encoded by the NKX2-1 gene. This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TFF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription.
NKX2-1; NK2 homeobox 1; BCH, benign chorea , NKX2A, thyroid transcription factor 1 , TITF1; homeobox protein Nkx-2.1; TTF 1; TTF1; NK-2 homolog A; thyroid nuclear factor 1; thyroid transcription factor 1; homeobox protein NK-2 homolog A; BCH; BHC; NK-2; TITF1; NKX2.1; homeodomain protein NKx2.1