TBX6 gene

T-box 6

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. [provided by RefSeq, Aug 2008]

From UniProt:

T-box transcription factor that plays an essential role in the determination of the fate of axial stem cells: neural vs mesodermal. Acts in part by down-regulating, a specific enhancer (N1) of SOX2, to inhibit neural development. Seems to play also an essential role in left/right axis determination and acts through effects on Notch signaling around the node as well as through an effect on the morphology and motility of the nodal cilia.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Spondylocostal dysostosis 5

From UniProt:

Spondylocostal dysostosis 5, autosomal dominant (SCDO5): A rare condition of variable severity characterized by vertebral and costal anomalies. The main feature include dwarfism, vertebral fusion, hemivertebrae, posterior rib fusion, reduced rib number, and other rib malformations. [MIM:122600]

Cytogenetic Location: 16p11.2, which is the short (p) arm of chromosome 16 at position 11.2

Molecular Location: base pairs 30,085,793 to 30,091,919 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16p11.2, which is the short (p) arm of chromosome 16 at position 11.2