T-box transcription factor 4 (TBX4)

T-box transcription factor 4 (TBX4) is a DNA-binding transcription factor from the T-box gene family that regulates gene expression critical for embryonic development, especially in the formation of hindlimbs and organs such as the lungs and pelvis[1][2][6]. TBX4 is essential for limb bud initiation and specifies hindlimb identity in vertebrates[1][2]. Its action is influenced by Hox gene expression and further interacts with the Wnt signaling pathway and fibroblast growth factors to drive developmental patterning. TBX4 mutations are implicated in rare developmental disorders including small patella syndrome, pulmonary arterial hypertension (most notably in children), and more severe forms of limb and pulmonary agenesis. TBX4 is primarily a transcriptional regulator, not a classical receptor or enzyme, and is expressed in mesenchymal tissues during organogenesis[1][2][6][7].

Other names

T-box protein 4T-box transcription factor TBX4ICPPSPAPPASSPST-box 4