Aliases for TBXT Gene
External Ids for TBXT Gene
Previous HGNC Symbols for TBXT Gene
The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Variation in this gene was associated with susceptibility to neural tube defects and chordoma. A mutation in this gene was found in a family with sacral agenesis with vertebral anomalies. [provided by RefSeq, Sep 2018]
GeneCards Summary for TBXT Gene
TBXT (T-Box Transcription Factor T) is a Protein Coding gene. Diseases associated with TBXT include Sacral Agenesis With Vertebral Anomalies and Neural Tube Defects. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Cardiac Progenitor Differentiation. An important paralog of this gene is TBX19.
UniProtKB/Swiss-Prot Summary for TBXT Gene
Involved in the transcriptional regulation of genes required for mesoderm formation and differentiation. Binds to a palindromic site (called T site) and activates gene transcription when bound to such a site.