Molecular Function and Contribution of <i>TBX4</i> in Development and Disease.

Abstract

Over the past decade, recognition of the profound impact of the <i>TBX4</i> (<i>T-box 4</i>) gene, which encodes a member of the evolutionarily conserved family of T-box-containing transcription factors, on respiratory diseases has emerged. The developmental importance of <i>TBX4</i> is emphasized by the association of <i>TBX4</i> variants with congenital disorders involving respiratory and skeletal structures; however, the exact role of <i>TBX4</i> in human development remains incompletely understood. Here, we discuss the developmental, tissue-specific, and pathological <i>TBX4</i> functions identified through human and animal studies and review the published <i>TBX4</i> variants resulting in variable disease phenotypes. We also outline future research directions to fill the gaps in our understanding of <i>TBX4</i> function and of how <i>TBX4</i> disruption affects development.