TBXT
GeneName
TBXT
Summary
TBXT, also known as AST or protein T, is a 47 kDa DNA-binding transcription factor that plays a crucial role in embryonic development. It is primarily expressed in the nucleus and is involved in various processes such as anterior/posterior axis specification, cardiac muscle cell differentiation, and mesoderm formation. TBXT functions by binding to specific DNA sequences to regulate transcription, both positively and negatively, particularly in the context of RNA polymerase II. Its activity is essential for heart morphogenesis and somitogenesis, contributing to the proper development of the embryo.
Importance
TBXT is relevant to: - Understanding the mechanisms of embryonic development and organogenesis, particularly in heart formation. - Investigating congenital heart defects, as mutations in TBXT may disrupt normal cardiac development. - Exploring cell fate specification and differentiation processes, which are fundamental in developmental biology and regenerative medicine. - Studying transcriptional regulation and its implications in various diseases, including cancer, where dysregulation of transcription factors can lead to aberrant cell behaviour.
Top Products
For researchers investigating TBXT, we highly recommend the top-selling recombinant antibody, Anti-Brachyury / Bry antibody [EPR18113] (ab209665). This antibody has been validated for a variety of applications, including immunocytochemistry (ICC), immunohistochemistry (IHC), flow cytometry (FC), western blotting (WB), and immunoprecipitation (IP), making it a versatile tool for your research needs. With 60 citations, it is well-regarded in the scientific community, reflecting its reliability and effectiveness in TBXT studies.
Abcam Product Citation Summary
The data indicates that the TBXT gene is being studied in the context of notochordal and immature nucleus pulposus cell markers, highlighting its potential role in developmental biology and tissue engineering.
Abcam Product Citation Table
Function
Involved in the transcriptional regulation of genes required for mesoderm formation and differentiation. Binds to a palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence and activates gene transcription when bound to such a site.
Involvement in disease
Neural tube defects
NTD
Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Chordoma
CHDM
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.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry. Susceptibility to development of chordomas is due to a T gene duplication.
Sacral agenesis with vertebral anomalies
SAVA
A disorder characterized by abnormalities of the spine, including sacral agenesis, abnormal ossification of all vertebral bodies, and a persistent notochordal canal during development.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Detected in testis, but not in other, normal tissues. Detected in lung tumors (at protein level).
Cellular localization
- Nucleus
Alternative names
T, TBXT, T-box transcription factor T, Brachyury protein, Protein T