TTF-1 Antibody – Rabbit 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, Apr 2011]

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 by STK3/MST2

By similarity.

Involvement in disease: Chorea, hereditary benign (BHC) [MIM:118700]: A rare autosomal dominant movement disorder, defined by early onset in childhood, a stable or non-progressive course of chorea, and no mental deterioration. Chorea is characterized by involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.15Choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD) [MIM:610978]: This syndrome include neurological, thyroid, and respiratory problems.Note: The disease is caused by mutations affecting the gene represented in this entry. 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.