T-box 3 (TBX3) is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. The Tbx3 protein is a transcriptional repressor that binds the canonical Brachychury bindig sites, and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Tbx3 is required for normal mammary development and is also implicated in tumor development. Tbx3 expression also increases during osteoblast differentiation, and may function as a determinant of osteoblast cell numbers. Mutations in T-box 3 cause ulnar-mammary syndrome (MIM 181450), affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing results in three transcript variants encoding different isoforms; however, the nature of one full length variant has not been determined. Subsets of human breast cancer cell lines overexpress TBX36. in vitro, Tbx3 overexpression in mouse embryo fibroblasts leads to immortalization of cells. Truncated forms of Tbx3 are increased in plasma samples.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: bladder cancer related protein XHL; T-box 3 (ulnar mammary syndrome); T-box protein 3; T-box transcription factor TBX3
Gene Aliases: D5Ertd189e; TBX3; TBX3-ISO; UMS; XHL