TBX3, T-box transcription factor TBX3, T-box protein 3
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. [provided by RefSeq, Jul 2008],disease:Defects in TBX3 are the cause of ulnar-mammary syndrome (UMS) [MIM:181450]. UMS is characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands.,function:Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern formation.,similarity:Contains 1 T-box DNA-binding domain.,tissue specificity:Widely expressed.,
