Brachyury (BRY) Antibody – Mouse Monoclonal

The protein encoded by this gene is an embryonic nuclear transcription factor that binds to a specific DNA element, the palindromic T-site. It binds through a region in its N-terminus, called the T-box, and effects transcription of genes required for mesoderm formation and differentiation. The protein is localized to notochord-derived cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]

Brachyury: 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). 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). 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. Susceptibility to development of chordomas is due to a T gene duplication.

Protein type: Motility/polarity/chemotaxis; DNA-binding; Cell cycle regulation; Transcription factor

Chromosomal Location of Human Ortholog: 6q27

Cellular Component: cytoplasm; nuclear chromatin; nucleus

Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; transcription factor activity

Biological Process: transcription from RNA polymerase II promoter; heart morphogenesis; somitogenesis; neural plate morphogenesis; embryonic skeletal development; mesoderm migration; notochord formation; negative regulation of transcription from RNA polymerase II promoter; Wnt receptor signaling pathway through beta-catenin; signal transduction; BMP signaling pathway; determination of anterior/posterior axis, embryo; positive regulation of cell proliferation; neural tube closure; penetration of zona pellucida; mesoderm development; vasculogenesis

Disease: Neural Tube Defects; Sacral Agenesis With Vertebral Anomalies