TBX1 Antibody

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. TBX1 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 TBX1 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. 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.

For short periods of storage (days) store at 4˚ C. For longer periods of storage, store TBX1 antibody at -20˚ C. As with any antibody avoid repeat freeze-thaw cycles.

TBX1 antibody can be used for detection of TBX1 by ELISA at 1:62500. TBX1 antibody can be used for detection of TBX1 by western blot at 1 μ g/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.