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.
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Protein Aliases: brachyury; CAFS; CTHM; DGCR; DGS; DORV; T-box 1 transcription factor C; T-box protein 1; T-box transcription factor TBX1; TBX1C; Testis-specific T-box protein; TGA; VCFS
Gene Aliases: CAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1; TBX1C; TGA; VCF; VCFS
UniProt ID: (Human) O43435
Entrez Gene ID: (Human) 6899