Description
Product Characteristics: BCH, Benign chorea, BHC, Homeobox protein Nkx2.1, NK2 homeobox 1, NKX2.1, NKX2A, TEBP, Thyroid nuclear factor-1, Thyroid specific enhancer binding protein, Thyroid transcription factor-1 (TTF-1), Tin man, TITF1, TTF-1,TTF-1 / NKX2.1 (Thyroid & Lung Epithelial Marker)
Cellular localisation: Nuclear
Target Information: 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. [provided by RefSeq, Apr 2011]