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Description
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. [provided by RefSeq
Specifications
Specifications
| Antigen | TBX1 |
| Applications | Immunofluorescence, Immunohistochemistry (PFA fixed), Western Blot |
| Classification | Polyclonal |
| Concentration | 1 mg/mL |
| Conjugate | Unconjugated |
| Description | Rabbit polyclonal antibody raised against synthetic peptide of TBX1. |
| Dilution | Western Blot (1:500-1:1000) Immunohistochemistry (1:50-1:200) Immunofluorescence (1:50-1:200) The optimal working dilution should be determined by the end user. |
| Formulation | In 1X PBS, pH 7.2 (0.05% sodium azide) |
| Gene | TBX1 |
| Gene Alias | CAFS/CTHM/DGCR/DGS/DORV/TBX1C/TGA/VCFS |
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