TBX1 Antibody – Rabbit

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

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.

Protein type: DNA-binding; Transcription factor

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; positive regulation of transcription, DNA-dependent; heart development; muscle cell fate commitment; cell fate specification; middle ear morphogenesis; ear morphogenesis; anterior/posterior pattern formation; sensory perception of sound; epithelial cell differentiation; positive regulation of MAPKKK cascade; positive regulation of cell proliferation; positive regulation of mesenchymal 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; thymus development; transcription, DNA-dependent; outer ear morphogenesis; semicircular canal morphogenesis; embryonic cranial skeleton morphogenesis; embryonic viscerocranium morphogenesis; social behavior; parathyroid gland development; pattern specification process; 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; positive regulation of protein amino acid phosphorylation; soft palate development; determination of left/right symmetry; lymph vessel development; vagus nerve morphogenesis; positive regulation of epithelial cell proliferation

Disease: Conotruncal Heart Malformations; Digeorge Syndrome; Velocardiofacial Syndrome; Tetralogy Of Fallot