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.
| Target |
TBX1 |
| Reactivity |
Human |
| Host |
Rabbit |
| Clonality |
Polyclonal |
| Tested Applications |
WB, IHC, IF/ICC |
| Recommended dilutions |
Optimal dilutions/concentrations should be determined by the end user. |
| Immunogen |
KLH-conjugated synthetic peptide between 327-356 amino acids from the C-terminal region of human TBX1. |
| Purification |
Purified through a protein A column, followed by peptide affinity purification. |
| Isotype |
IgG |
| Conjugation |
Unconjugated |
| Storage |
Aliquot and store at -20°C. Avoid repeated freeze/thaw cycles. |
| Swiss Prot |
O43435
|
| Gene Symbol |
TBX1 |
| NCBI Accession |
NP_005983.1
NP_542377.1
NP_542378.1
|
| Buffer |
PBS containing 0.09% sodium azide. |
| UNSPSC Code |
12352203 |
| Availability |
Shipped within 5-10 working days. |
| Note |
This product is for research use only. |