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TBX1 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: DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 22q11.21
Cellular Component: nucleus
Molecular Function: protein homodimerization activity; sequence-specific DNA binding; transcription factor activity
Biological Process: angiogenesis; anterior/posterior pattern formation; artery morphogenesis; blood vessel development; blood vessel morphogenesis; cell fate specification; cell proliferation; determination of left/right symmetry; ear morphogenesis; embryonic cranial skeleton morphogenesis; embryonic viscerocranium morphogenesis; epithelial cell differentiation; heart development; heart morphogenesis; inner ear morphogenesis; lymph vessel development; mesoderm development; middle ear morphogenesis; muscle cell fate commitment; muscle development; muscle morphogenesis; negative regulation of cell differentiation; neural crest cell migration; odontogenesis of dentine-containing teeth; outer ear morphogenesis; parathyroid gland development; pattern specification process; pharyngeal system development; positive regulation of cell proliferation; positive regulation of epithelial cell proliferation; positive regulation of MAPKKK cascade; positive regulation of mesenchymal cell proliferation; positive regulation of protein amino acid phosphorylation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; regulation of transcription from RNA polymerase II promoter; retinoic acid receptor signaling pathway; semicircular canal morphogenesis; sensory perception of sound; social behavior; soft palate development; thymus development; thyroid gland development; tongue morphogenesis; vagus nerve morphogenesis
Disease: Conotruncal Heart Malformations; Digeorge Syndrome; Tetralogy Of Fallot; Velocardiofacial Syndrome
Reference #:  O43435 (UniProtKB)
Alt. Names/Synonyms: brachyury; CAFS; CTHM; DGCR; DGS; DORV; T-box 1; T-box 1 transcription factor C; T-box protein 1; T-box transcription factor TBX1; t-box transcription factor TBX1 1; t-box transcription factor TBX1 2; TBX1; TBX1C; Testis-specific T-box protein; TGA; VCFS
Gene Symbols: TBX1
Molecular weight: 43,133 Da
Basal Isoelectric point: 8.37  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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