Anti-Brachyury / Bry antibody [6C12] (ab135254)

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.

Genetic variations in T are associated with susceptibility to neural tube defects (NTD) [MIM:182940]. NTD are common congenital malformations. Spina bifida, which results from malformations in the caudal region of the neural tube, is compatible with life but associated with significant morbidity, including lower limb paralysis.
T is involved in susceptibility to the development of chordoma (CHDM) [MIM:215400]. Chordomas are rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues and rarely, distant metastatic spread. Note=Susceptibility to development of chordomas is due to a T gene duplication.

Contains 1 T-box DNA-binding domain.

Nucleus.