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Beschreibung

T-box transcription factor TBX1 (UniProt O43435, also known as T-box protein 1, Testis-specific T-box protein) is encoded by the TBX1 (also known as CTHM, DGS, TBX1C, VCFS) gene (Gene ID 6899) in human. TBX1 blongs to the T-box family of transcription factors that play important roles in the formation of tissues and organs during embryonic development. TBX1 is required for the second heart field (SHF) development for outflow tract development by regulating proliferation and differentiation of SHF cells. TBX1 is also shown to negatively regulate thymic epithelial cell (TEC) growth and differentiation in mice, extinction of Tbx1 gene expression in the third pharyngeal pouch (3rd pp) endoderm is a prerequisite for thymus organogenesis. Human TBX mutations cause DiGeorge syndrome, characterized by parathyroid hypoplasia, thymic hypoplasia, defects in the outflow tract of the heart, and craniofacial anomalies.