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.
Intended for research use only. Not for use in human, therapeutic, or diagnostic applications.