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.
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