| 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. | 
| Applications: | ELISA, WB, IHC | 
| Name of antibody: | TBX1 | 
| Immunogen: | Synthetic peptide of human TBX1 | 
| Full name: | T-box 1 | 
| Synonyms: | DGS; TGA; VCF; CAFS; CTHM; DGCR; DORV; VCFS; TBX1C; CATCH22 | 
| SwissProt: | O43435 | 
| ELISA Recommended dilution: | 5000-10000 | 
| IHC positive control: | Human liver cancer | 
| IHC Recommend dilution: | 25-100 | 
| WB Predicted band size: | 43 kDa | 
| WB Positive control: | 293T and Hela cell lysates | 
| WB Recommended dilution: | 500-2000 | 
	
	
 
 
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