This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to 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.
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Protein Aliases: Homeobox protein NK-2 homolog A; Homeobox protein Nkx-2.1; NK-2 homolog A; T/EBP; Thyroid nuclear factor 1; Thyroid transcription factor 1; Thyroid-specific enhancer-binding protein; TTF-1
Gene Aliases: BCH; BHC; NK-2; NKX2-1; NKX2.1; NKX2A; NMTC1; T/EBP; TEBP; TITF1; TTF-1; TTF1
UniProt ID: (Human) P43699
Entrez Gene ID: (Human) 7080