TTF-1 Antibody – Mouse Monoclonal

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]

Function: Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung development and surfactant homeostasis.

Subunit structure: Interacts with WWTR1. Ref.10

Subcellular location: Nucleus.

Tissue specificity: Thyroid and lung.

Post-translational modification: Phosphorylated on serine residues

Involvement in disease: Defects in NKX2-1 are the cause of benign hereditary chorea (BHC) [

MIM:118700]; also known as hereditary chorea without dementia. BHC is an autosomal dominant movement disorder. The early onset of symptoms (usully before the age of 5) and the observation that in some BHC families the symptoms tend to decrease in adulthood suggests that the disorder results from a developmental disturbance of the brain. BHC is non-progressive and patients have normal or slightly below normal intelligence. There is considerable inter- and intrafamilial variability, including dysarthria, axial distonia and gait disturbances. Ref.11 Ref.15Defects in NKX2-1 are the cause of choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD) [

MIM:610978]. This syndrome include neurological, thyroid, and respiratory problems. Ref.12 Ref.13 Ref.14 Ref.15

Sequence similarities: Belongs to the NK-2 homeobox family.Contains 1 homeobox DNA-binding domain.

Sequence caution: The sequence AAH06221.2 differs from that shown. Reason: Erroneous initiation. The sequence BAA23527.1 differs from that shown. Reason: Erroneous gene model prediction.