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.1) Ma, G., (2007) Neurosci. Lett. 425 (3), 146-150.
Immunogen
Antibody produced in rabbits immunized with a synthetic peptide corresponding a region of human TBX1.
Key Feature
Clonality
Polyclonal
Host Species
Rabbit
Tested Applications
ELISAWB
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 μg/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.:
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 μg/mL, and HRP conjugated secondary antibody should be diluted 1:50,000 - 100,000.:
Additional Information
Form
Liquid
Storage Instructions
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.
Storage Buffer
Antibody is lyophilized in PBS buffer with 2% sucrose. Add 50 μL of distilled water. Final antibody concentration is 1 mg/mL.