TBX6


Description

The TBX6 (T-box transcription factor 6) is a protein-coding gene located on chromosome 16.

TBX6 is a protein encoded by the TBX6 gene in humans. This gene is part of a conserved family of genes, all sharing a common DNA-binding domain called the T-box. T-box genes encode transcription factors involved in regulating developmental processes. Studies in mice suggest that TBX6 is critical for specifying the development of paraxial mesoderm structures. TBX6 is also essential for segmenting the paraxial mesoderm into somites and for normal dermomyotome development in zebrafish. Without TBX6, zebrafish fail to develop a central dermomyotome. TBX6 functions in a gene regulatory network with mesp-b and ripply1.

TBX6 is a crucial transcription factor that determines the fate of axial stem cells, guiding them towards either neural or mesodermal development. It achieves this by downregulating the N1 enhancer of SOX2, a key regulator of neural development, thereby suppressing neural development. Additionally, TBX6 plays a vital role in establishing the left-right axis, influencing Notch signaling around the node and impacting the structure and movement of nodal cilia.

TBX6 is also known as SCDO5.

Associated Diseases


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