Gene: TBX6

Alternate names for this Gene: SCDO5

Gene Summary: 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16p11.2

Description of this Gene: T-box transcription factor 6

Type of Gene: protein-coding

rs201620629 in TBX6 gene and SPONDYLOCOSTAL DYSOSTOSIS 5 PMID 25564734 2015 TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

PMID 23335591 2013 Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

rs202193096 in TBX6 gene and Scoliosis, unspecified PMID 25564734 2015 TBX6 null variants and a common hypomorphic allele in congenital scoliosis.