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. 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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: brachyury; T-box 1 transcription factor C; T-box protein 1; T-box transcription factor TBX1; Testis-specific T-box protein
Gene Aliases: CAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1; TBX1C; TGA; VCF; VCFS
Molecular Function: Rel homology transcription factor