5qs1

Structural highlights

Disease

TBXT_HUMAN Thoracolumbosacral spina bifida cystica;Cervicothoracic spina bifida cystica;Lumbosacral spina bifida cystica;Cervicothoracic spina bifida aperta;Upper thoracic spina bifida aperta;Lumbosacral spina bifida aperta;Thoracolumbosacral spina bifida aperta;Cervical spina bifida cystica;Upper thoracic spina bifida cystica;Total spina bifida aperta;Chordoma;Total spina bifida cystica;Cervical spina bifida aperta;Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome. Disease susceptibility is associated with variations affecting the gene represented in this entry. Disease susceptibility is associated with variations affecting the gene represented in this entry. Susceptibility to development of chordomas is due to a T gene duplication. The disease is caused by mutations affecting the gene represented in this entry.

Function

TBXT_HUMAN 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.[UniProtKB:P20293]

See Also

• Brachyury