DNA-binding domain of T-box transcription factor 4 and 5, and related T-box proteins
This subfamily includes the T-box transcription factors TBX4 and TBX5 which play important roles in vertebrate limb and heart development, and in lung and trachea development. TBX4 is needed for normal skeletal and muscular hindlimb development and is involved in super-enhancer-driven transcriptional programs underlying features specific to lung fibroblasts. TBX5 plays a role in regulating cardiac conduction system function, and in coordinating forelimb muscle pattern. Mutations in human TBX5 and TBX4 are associated with Holt-Oram syndrome and Small Patella syndrome, respectively. Both syndromes are characterized by limb defects in addition to other abnormalities. This subfamily belongs to the T-box family of transcription factors which play a multitude of diverse functions throughout development. The founding member of the T-box family is Brachyury (also known as TBXT, or T). T-box family members share a conserved DNA-binding domain (T-box) which binds DNA in a sequence-specific manner. Common features shared by T-box family members are DNA-binding and transcriptional regulatory activity, a role in development, and conserved expression patterns.
Jiyao W et al.(2023). "The conserved domain database in 2023.",