TBX3

T-box transcription factor TBX3 is a protein that in humans is encoded by the TBX3 gene.

Function

This gene 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. This protein is a transcriptional repressor and is thought to play a role in the anterior/posterior axis of the tetrapod forelimb. Mutations in this gene cause ulnar-mammary syndrome, affecting limb, apocrine gland, tooth, hair, and genital development. Alternative splicing of this gene results in three transcript variants encoding different isoforms; however, the full length nature of one variant has not been determined. Mutations in TBX3 are implicated in cases of breast cancer.

External links

• TBX3 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)