Species Human Entrez 6926 | Human Mouse Ensembl ENSG00000135111 | |
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Aliases TBX3, TBX3-ISO, UMS, XHL, T-box 3 External IDs MGI: 98495 HomoloGene: 4371 GeneCards: 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. TBX3 is also responsible for the dun color in horses, but its expression or lack of expression has no deleterious effects on horses, only affecting hair color.