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NKX2-1 / Thyroid-Specific TF
NK2 homeobox 1
TTF-1 / Thyroid-Specific TF is 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 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription.
| Gene Name: | NK2 homeobox 1 |
| Synonyms: | NKX2-1, BCH, Benign chorea, Homeobox protein Nkx-2.1, NK-2, NKX2.1, NK-2 homolog A, Thyroid transcription factor 1, NK2 homeobox 1, TTF-1, BHC, Thyroid nuclear factor 1, TITF1, NKX2A, TEBP |
| Target Sequences: | NM_003317 NP_003308.1 P43699 |
Publications (2)
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