TBX1

TBX1 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. TBX1 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 TBX1 has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for TBX1 in the molecular etiology of DGS/VCFS.

T-Box 1

Probable transcriptional regulator involved in developmental processes (By similarity).
Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence (PubMed:11111039).
Is required for normal development of the pharyngeal arch arteries (By similarity).

Biological Process angiogenesisISS:UniProtKB
Biological Process anterior/posterior pattern specificationISS:UniProtKB
Biological Process aorta morphogenesisISS:UniProtKB
Biological Process artery morphogenesisISS:UniProtKB
Biological Process blood vessel developmentISS:UniProtKB
Biological Process blood vessel morphogenesisISS:UniProtKB
Biological Process cell fate specificationISS:UniProtKB
Biological Process cell population proliferationISS:UniProtKB
Biological Process cellular response to fibroblast growth factor stimulusISS:UniProtKB
Biological Process cellular response to retinoic acidISS:UniProtKB
Biological Process cochlea morphogenesisISS:UniProtKB
Biological Process coronary artery morphogenesisISS:UniProtKB
Biological Process determination of left/right symmetryISS:UniProtKB
Biological Process ear morphogenesisISS:UniProtKB
Biological Process embryonic cranial skeleton morphogenesisISS:UniProtKB
Biological Process embryonic viscerocranium morphogenesisIMP:UniProtKB1 Publication
Biological Process enamel mineralizationISS:UniProtKB
Biological Process epithelial cell differentiationISS:UniProtKB
Biological Process face morphogenesisISS:UniProtKB
Biological Process heart developmentIMP:UniProtKB1 Publication
Biological Process heart morphogenesisISS:UniProtKB
Biological Process inner ear morphogenesisISS:UniProtKB
Biological Process lymph vessel developmentISS:UniProtKB
Biological Process mesenchymal cell apoptotic processISS:UniProtKB
Biological Process mesoderm developmentISS:UniProtKB
Biological Process middle ear morphogenesisISS:UniProtKB
Biological Process muscle cell fate commitmentISS:UniProtKB
Biological Process muscle organ developmentISS:UniProtKB
Biological Process muscle organ morphogenesisISS:UniProtKB
Biological Process muscle tissue morphogenesisISS:UniProtKB
Biological Process negative regulation of cell differentiationISS:UniProtKB
Biological Process negative regulation of mesenchymal cell apoptotic processISS:UniProtKB
Biological Process neural crest cell migrationISS:UniProtKB
Biological Process odontogenesis of dentin-containing toothISS:UniProtKB
Biological Process outer ear morphogenesisISS:UniProtKB
Biological Process outflow tract morphogenesisISS:UniProtKB
Biological Process outflow tract septum morphogenesisISS:UniProtKB
Biological Process parathyroid gland developmentIMP:UniProtKB1 Publication
Biological Process pattern specification processISS:UniProtKB
Biological Process pharyngeal system developmentIMP:UniProtKB1 Publication
Biological Process positive regulation of cell population proliferationISS:UniProtKB
Biological Process positive regulation of DNA-templated transcriptionIDA:UniProtKB
Biological Process positive regulation of epithelial cell proliferationISS:UniProtKB
Biological Process positive regulation of MAPK cascadeISS:UniProtKB
Biological Process positive regulation of mesenchymal cell proliferationISS:UniProtKB
Biological Process positive regulation of protein phosphorylationISS:UniProtKB
Biological Process positive regulation of tongue muscle cell differentiationISS:UniProtKB
Biological Process positive regulation of transcription by RNA polymerase IIISS:UniProtKB
Biological Process regulation of animal organ morphogenesisISS:UniProtKB
Biological Process regulation of transcription by RNA polymerase IIISS:UniProtKB
Biological Process retinoic acid receptor signaling pathwayISS:UniProtKB
Biological Process semicircular canal morphogenesisISS:UniProtKB
Biological Process sensory perception of soundISS:UniProtKB
Biological Process social behaviorISS:UniProtKB
Biological Process soft palate developmentIMP:UniProtKB1 Publication
Biological Process thymus developmentIMP:UniProtKB1 Publication
Biological Process thyroid gland developmentISS:UniProtKB
Biological Process tongue morphogenesisISS:UniProtKB
Biological Process vagus nerve morphogenesisISS:UniProtKB

Nucleus

DiGeorge syndrome (DGS):
A congenital syndrome characterized by a wide spectrum of characteristics including parathyroid hypoplasia resulting in hypocalcemia, thymic hypoplasia resulting in T-cell immunodeficiency, defects in the outflow tract of the heart, and craniofacial anomalies. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype.
Velocardiofacial syndrome (VCFS):
A syndrome characterized by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus, and conotruncal region of the heart. The phenotype is highly variable, with no single clinical feature present in every patient. Affected individuals may present with structural or functional palatal abnormalities, cardiac defects, unique facial characteristics, hypernasal speech, hypotonia, and defective thymic development associated with impaired immune function. In addition, affected individuals may present with learning disabilities, overt developmental delay, and psychiatric disorders.
Conotruncal heart malformations (CTHM):
A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.