TBX3


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TBX3

A gene on chromosome 12q24.1 that encodes a DNA-binding member of the phylogenetically conserved family of genes that have a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in regulating development; TBX3 is a transcriptional repressor and thought to play a role in orienting the anterior/posterior axis of the tetrapod forelimb.

Molecular pathology
TBX3 mutations cause ulnar-mammary syndrome, which affects limb, apocrine gland, tooth, hair and genital development.
References in periodicals archive ?
TBX3 - a gene transcription factor that targets a known colorectal cancer pathway
The combined effect of genetic variants for 4 genes associated with PSA concentrations [TERT (telomerase reverse transcriptase), FGFR2 (fibroblast growth factor receptor 2), TBX3 (T-boxprotein 3), and KLK3] has been studied in 2 populations (in Iceland and the UK), on the assumption of a multiplicative model.
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.
The Tbx3 protein, which is a transcription factor encoded by the TBX3 gene, has been linked to heart development, but its role is not yet clearly defined.