T-box transcription factor TBX1 also known as T-box protein 1 and testis-specific T-box protein is a protein that in humans is encoded by the TBX1 gene. [5] Genes in the T-box family are transcription factors that play important roles in the formation of tissues and organs during embryonic development. [ 6 ]

2024年12月25日 · TBX1 (T-Box Transcription Factor 1) is a Protein Coding gene. Diseases associated with TBX1 include Digeorge Syndrome and Velocardiofacial Syndrome. Among its related pathways are Nervous system development and Heart development.

The TBX1 gene provides instructions for making a protein called T-box protein 1. Genes in the T-box family play important roles in the formation of tissues and organs during embryonic development.

Tbx1 is haploinsufficient and is involved in an important genetic disorder. The gene encodes a T-box transcription factor that is expressed from approximately E7.5 in mouse embryos and continues to be expressed in a highly dynamic manner.

TBX1 T-box domain binds DNA as two distinct monomers. TBX1 isoform C is the biologically essential variant and that TBX1 mutations are associated with a wide phenotypic spectrum, including most of 22q11.2DS phenotypes. Findings indicate an association between TBX1 variations and fetal CTD.

TBX1 is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes are transcription factors involved in the regulation of developmental processes (see TBX2, 600747).

2023年10月10日 · In this issue of Immunity, Wang and colleagues discover a mechanism underlying this cooperation, dependent on the transcription factor Tbx1 and responsible for the creation of an immunosuppressive niche that mitigates autoimmunity.

2013年3月22日 · In this study, we characterized heart defects and downstream signaling in the zebrafish tbx1−/− mutant, which has craniofacial and immune defects similar to DGS patients. We show that tbx1−/− mutants have defective heart looping, morphology and function.

2024年11月2日 · Expression, function, and regulation of the embryonic transcription factor TBX1 in parathyroid tumors. Verdelli C, Avagliano L, Guarnieri V, Cetani F, Ferrero S, Vicentini L, Beretta E, Scillitani A, Creo P, Bulfamante GP, Vaira V, Corbetta SVerdelli C, et al .

2009年9月10日 · We propose that Tbx1 is a key regulator of CPC homeostasis as it modulates positively their proliferation and negatively their differentiation.