TBX4 Antibody – Rabbit Polyclonal

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 gene is the human homolog of mouse Tbx4, which is closely linked to Tbx2 on mouse chromosome 11. Similarly this gene, like TBX2, maps to human chromosome 17. Expression studies in mouse and chicken show that Tbx4 is expressed in developing hindlimb, but not in forelimb buds, suggesting a role for this gene in regulating limb development and specification of limb identity. [provided by RefSeq, Jul 2008]

TBX4: Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. Defects in TBX4 are the cause of small patella syndrome (SPS); also known as ischiopatellar dysplasia or Scott-Taor syndrome. SPS is an autosomal dominant skeletal dysplasia characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 17q21-q22

Cellular Component: nucleus

Molecular Function: DNA binding; transcription factor activity

Biological Process: regulation of transcription, DNA-dependent; transcription, DNA-dependent; skeletal morphogenesis; multicellular organismal development; morphogenesis of an epithelium; angiogenesis; limb morphogenesis; lung development; embryonic limb morphogenesis

Disease: Small Patella Syndrome