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Catalog Number: |
43639 |
| other_names: | DGS; TGA; VCF; CAFS; CTHM; DGCR; DORV; VCFS; TBX1C; CATCH22 |
Amount: |
100μg |
| calculated_mw: | 43kd |
| host_species: | Rabbit |
Price: |
$319 |
Swiss-Prot No: |
Swiss-Prot#: O43435 |
Form of Antibody: |
Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol. |
Storage/Stability: |
|
Immunogen: |
Synthetic peptide of human TBX1 |
Purification: |
Antigen affinity purification |
Specificity/Sensitivity: |
The antibody detects endogenous levels of total TBX1 protein. |
Applications: |
IHC WB |
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. |
References: |
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appl_detail: |
Western blotting: 1:200-1000 |
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