TBX1

T-box transcription factor TBX1 ;
T-box protein 1 ;
Testis-specific T-box protein ;

disease:Defects in TBX1 are a cause of conotruncal heart malformations (CTHM) [MIM:217095]. 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.,disease:Defects in TBX1 are a cause of DiGeorge syndrome (DGS) [MIM:188400].,disease:Defects in TBX1 are a cause of velocardiofacial syndrome (VCFS) [MIM:192430].,disease:Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) [MIM:188400, 192430]. 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.,function:Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries.,similarity:Contains 1 T-box DNA-binding domain.,

skeletal system development, angiogenesis, blood vessel development, ameboidal cell migration, cell fate specification, neural crest cell migration, vasculature development, blood vessel remodeling, immune system development, regionalization, heart morphogenesis, transcription, regulation of transcription, DNA-dependent,regulation of transcription from RNA polymerase II promoter, cell motion, determination of left/right symmetry, pattern specification process, sensory organ development, mesoderm development, heart development, muscle organ development, sensory perception, sensory perception of sound, behavior, cell proliferation, embryonic development ending in birth or egg hatching, determination of symmetry, determination of bilateral symmetry, positive regulation of biosynthetic process, anterior/posterior pattern formation, positive regulation of macromolecule biosynthetic process,positive regulation of macromolecule metabolic process, positive regulation of gene expression, mesenchymal cell development, neural crest cell development, neural crest cell differentiation, cell migration, thyroid gland development,positive regulation of cellular biosynthetic process, social behavior, endocrine system development, ear morphogenesis, inner ear morphogenesis, outer ear morphogenesis, middle ear morphogenesis, chordate embryonic development, ear development, cell fate commitment, regulation of transcription, positive regulation of transcription, DNA-dependent, positive regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process, positive regulation of transcription, positive regulation of transcription from RNA polymerase II promoter, blood vessel morphogenesis, hemopoietic or lymphoid organ development, thymus development, embryonic organ morphogenesis,embryonic organ development, embryonic morphogenesis, embryonic cranial skeleton morphogenesis, embryonic viscerocranium morphogenesis, embryonic skeletal system morphogenesis, skeletal system morphogenesis, embryonic skeletal system development, gland development, mesenchymal cell differentiation, tissue remodeling, inner ear development, artery morphogenesis, cell motility, neurological system process, cognition, sensory perception of mechanical stimulus, positive regulation of nitrogen compound metabolic process, regulation of RNA metabolic process,positive regulation of RNA metabolic process, localization of cell, behavioral interaction between organisms,parathyroid gland development, palate development, soft palate development, pharyngeal system development,mesenchyme development,

Nucleus .