TBX1 Polyclonal Antibody

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.

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