Entrez gene ID | | 7080 |
Official gene symbol | | NKX2-1 |
Full name | | NK2 homeobox 1 |
Aliases | | ,BCH,BHC,NK-2,NKX2.1,NKX2A,TEBP,TITF1,TTF-1,TTF1, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 14 Locus: 14q13 |
Gene position | | 36989430 - 36985602 Map Viewer |
Gene orientation | | minus |
Gene size | | 3829 bp |
Gene sequence |
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OMIM ID | | 600635 |
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