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 ?
3] Human genes: KLK3, kallikrein-related peptidase 3; TERT, telomerase reverse transcriptase; FGFR2, fibroblast growth factor receptor 2; MSMB, microsemino- protein, beta-; TBX3, T-box 3; HNF1B, HNF1 homeobox B.
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome.
For the FQA we selected 5 candidate regions, CDC42EP1, MGC15523, SOX14, SPN, and TBX3, which showed increased placental methylation and no methylation in maternal PBMCs (see online Supplemental Fig.
Although quantification within this range is associated with a larger measurement variation, the data showed that SOX14 and TBX3 are not methylated in maternal plasma.