Brachyury (T) ELISA Kit for Mouse

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

Chromosomal Location of Human Ortholog: 17 A1|17 4.92 cM

Cellular Component: chromatin; cytoplasm; nuclear chromatin; nucleus

Molecular Function: DNA binding; DNA binding transcription factor activity; protein binding; sequence-specific DNA binding; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding

Biological Process: anatomical structure morphogenesis; anterior/posterior pattern specification; BMP signaling pathway; cardiac muscle cell differentiation; embryonic skeletal system development; heart morphogenesis; mesoderm development; mesoderm migration involved in gastrulation; multicellular organism development; negative regulation of transcription from RNA polymerase II promoter; neural plate morphogenesis; neural tube closure; notochord development; notochord formation; penetration of zona pellucida; positive regulation of cell proliferation; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-templated; reproductive process; somitogenesis; transcription, DNA-dependent; vasculogenesis; Wnt receptor signaling pathway through beta-catenin

Disease: Neural Tube Defects