TBX1: Proteins and Enzymes

The T-box (TBX) motif is present in a family of genes whose structural features and expression patterns support their involvement in developmental gene regulation. The TBX gene family are largely conserved throughout metazoan evolution, and these genes code for putative transcription factors that share a uniquely defining DNA-binding domain. TBX genes are a family of developmental regulators with more than 20 members recently identified in invertebrates and vertebrates. Mutations in TBX genes are associated with the onset of several human diseases. Our understanding of functional mechanisms of TBX products has come mainly from the prototypical T/Brachyury, which is a transcription activator. The TBX genes constitute a family of transcriptional regulatory genes that are implicated in a variety of developmental processes ranging from the formation of germ layers to the organizational patterning of the central nervous system.