Alias |
Brachyury,CAFS,CTHM,DGCR,DGS,DORV,T box,T box 1,T box 1 transcription factor,T box 1 transcription factor C,T box protein 1,T box transcription factor TBX 1,T box transcription factor TBX1,T-box protein 1,T-box transcription factor TBX1,TBX 1,TBX 1C,tbx1,TBX1,TBX1C,Testis specific T box protein,Testis-specific T-box protein,TGA,VCFS |
Background |
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. |