| Protein Name | NK2 homeobox 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 7080 |
| Gene Symbol | NKX2-1 |
| UniProt | P43699 (NKX21_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
176
Total Number of Articles : 199 |
Description |
NK2 homeobox 1 |
| Gene Summary |
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 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014] |
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