TBX3 siRNA – T-Box Transcription Factor TBX3 Isoform 1 (Human)

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]

TBX3: Transcriptional repressor involved in developmental processes. Probably plays a role in limb pattern formation. Defects in TBX3 are the cause of ulnar-mammary syndrome (UMS). UMS is characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Transcription factor; DNA-binding

Chromosomal Location of Human Ortholog: 12q24.21

Cellular Component: nucleus

Molecular Function: protein binding; sequence-specific DNA binding

Biological Process: embryonic forelimb morphogenesis; limbic system development; positive regulation of transcription, DNA-dependent; negative regulation of epithelial cell differentiation; palate development; negative regulation of transcription from RNA polymerase II promoter; female genitalia development; forelimb morphogenesis; mammary gland development; determination of anterior/posterior axis, embryo; positive regulation of cell proliferation; male genitalia development; heart looping; skeletal development; luteinizing hormone secretion; blood vessel development; specification of organ position; transcription, DNA-dependent; in utero embryonic development; stem cell maintenance; cell aging; positive regulation of cell cycle; regulation of transcription from RNA polymerase II promoter; organ morphogenesis; mesoderm morphogenesis; follicle-stimulating hormone secretion; embryonic digit morphogenesis; negative regulation of transcription, DNA-dependent; negative regulation of myoblast differentiation; negative regulation of apoptosis

Disease: Ulnar-mammary Syndrome