What does Tbx5 code for?
The TBX5 gene provides instructions for making a protein called T-box 5 that plays an important role in the formation of tissues and organs during embryonic development. This protein regulates the activity of other genes by attaching (binding) to specific regions of DNA.
What kind of protein is Tbx5 and what is its cellular function?
The Tbx5 gene is a transcription factor that codes for the protein called T-box 5. Along with playing roles in the development of the heart, septum, and electrical system of the heart, it also activates genes that are involved in the development of the upper limbs, the arms and hands.
Is Tbx5 a Hox gene?
Development. 2012 Sep;139(17):3180-8. doi: 10.1242/dev.
What does GATA4 stand for?
GATA Binding Protein 4
GATA4 (GATA Binding Protein 4) is a Protein Coding gene. Diseases associated with GATA4 include Testicular Anomalies With Or Without Congenital Heart Disease and Atrial Septal Defect 2.
Is Tbx5 a transcription factor?
TBX5 has been established as a master transcription factor for cardiac development. It has also been shown that TBX5, as well as TBX4 are essential for limb development. TBX5 mutations and SNPs may cause the cardiac and limb diseases and/or disease risk for corresponding defects under a variety of biological bases.
What tissues contain the Tbx5 gene?
Tbx5 is expressed in embryonic heart and limb tissues (9–12). During embryogenesis, Tbx5 expression starts at the earliest stages of heart formation and is co-localized with genes encoding other important cardiac transcription factors, Nkx2.
Where is Tbx5 found?
Tbx5 (T-box transcription factor 5) is a protein of 518 amino acids and a molecular weight of 57,711 Da. It is found in the cell nucleus but there are also reports of its location in the cytosol, cytoskeleton, and Golgi apparatus.
What is the Mef2 gene?
Mef2 is a critical regulator in heart development and cardiac gene expression. In vertebrates, there are four genes in the Mef2 transcription factor family: Mef2a, Mef2b, Mef2c, and Mef2d. Each is expressed at specific times during development.
What is gata 2 mutation?
GATA2 deficiency is caused by germline mutations in the GATA2 gene. Germline means that the mutation is present in every cell in the body, not just the immune system cells. The GATA2 gene produces a protein called a transcription factor. Transcription factors regulate when other genes are turned on.
Is TBX5 a transcription factor?
What is the TBX5 gene?
Tbx5 is a gene that is located on the long arm of chromosome 12. Tbx5 produces a protein called T-box 5 that acts as a transcription factor. The Tbx5 gene is involved with forelimb and heart development.
What is the role of Tbx5 transcription factor in Developmental Dynamics?
Developmental Dynamics. 219 (1): 90–5. doi: 10.1002/1097-0177 (200009)219:1<90::AID-DVDY1033>3.0.CO;2-L. PMID 10974675. Hatcher CJ, Kim MS, Mah CS, Goldstein MM, Wong B, Mikawa T, Basson CT (February 2001). “TBX5 transcription factor regulates cell proliferation during cardiogenesis”.
What happens if Tbx5 is removed from forelimbs?
A study showed that deletion of Tbx5 in forelimbs causes disruption in the muscle and tendon patterning without affecting the skeletons development. Tbx5 expression is in the cells of the lateral plate mesoderm which form the forelimb bud and the cascade of limb initiation. In its absence no forelimb bud forms.
How is Tbx5 nuclear localization mediated by intramolecular signals?
“TBX5 nuclear localization is mediated by dual cooperative intramolecular signals”. Journal of Molecular and Cellular Cardiology. 35 (10): 1191–5. doi: 10.1016/S0022-2828 (03)00231-1. PMID 14519429.