Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries. Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). DGS is characterized by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life. Defects in TBX1 are a cause of DiGeorge syndrome (DGS). Defects in TBX1 are a cause of velocardiofacial syndrome (VCFS). Defects in TBX1 are a cause of conotruncal heart malformations (CTHM). CTHM consist of cardiac outflow tract defects, such as tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Transcription factor; DNA binding protein
Chromosomal Location of Human Ortholog: 22q11.21
Cellular Component: nucleus
Molecular Function: protein dimerization activity; protein homodimerization activity; DNA binding; sequence-specific DNA binding; transcription factor activity
Biological Process: heart morphogenesis; retinoic acid receptor signaling pathway; muscle development; heart development; positive regulation of transcription, DNA-dependent; muscle cell fate commitment; cell fate specification; ear morphogenesis; middle ear morphogenesis; anterior/posterior pattern formation; sensory perception of sound; positive regulation of MAPKKK cascade; epithelial cell differentiation; positive regulation of mesenchymal cell proliferation; positive regulation of cell proliferation; thyroid gland development; mesoderm development; angiogenesis; muscle morphogenesis; neural crest cell migration; blood vessel development; inner ear morphogenesis; tongue morphogenesis; pharyngeal system development; transcription, DNA-dependent; thymus development; outer ear morphogenesis; semicircular canal morphogenesis; embryonic cranial skeleton morphogenesis; embryonic viscerocranium morphogenesis; social behavior; pattern specification process; parathyroid gland development; odontogenesis of dentine-containing teeth; regulation of transcription from RNA polymerase II promoter; cell proliferation; negative regulation of cell differentiation; blood vessel morphogenesis; artery morphogenesis; blood vessel remodeling; positive regulation of transcription from RNA polymerase II promoter; soft palate development; positive regulation of protein amino acid phosphorylation; lymph vessel development; determination of left/right symmetry; vagus nerve morphogenesis; positive regulation of epithelial cell proliferation
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.