TBX1 Polyclonal Antibody
Ucallm_WP14694-50
Price range: $268.00 through $328.00
Product details
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. [provided by RefSeq, Jul 2008],
Specifications
| Size | 50μL/100μL |
| Target | TBX1 |
| Reactivity | Human, Mouse |
| Applications | WB, IHC, IF, ELISA |
| MW(Calculated) | |
| MW(Observed) | 43kD |
| Host Species | Rabbit |
| Isotype | IgG |
| Conjugate/Modification | Unmodified |
| Recommended Dilution Ratio | WB 1:500-1:2000; IHC 1:100-1:300; IF 1:200-1:1000; ELISA 1:20000; Not yet tested in other applications. / Note: For IHC, we suggest antigen retrieval with TE buffer pH 9.0 (Cat#WT1004) |
| Formulation | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. |
| Storage | -15°C to -25°C/1 year(Do not lower than -25°C) |
| Concentration | 1 mg/ml |
| Clonality | Polyclonal |
| Clone Number | |
| Immunogen | The antiserum was produced against synthesized peptide derived from human TBX1. AA range:311-360 |
| Specificity | TBX1 Polyclonal Antibody detects endogenous levels of TBX1 protein. |
| Gene Name | TBX1 |
| Protein Name | T-box transcription factor TBX1 |
| Other Name | TBX1; / T-box transcription factor TBX1; / T-box protein 1; / Testis-specific T-box protein |
| Species | Human |
| Gene ID | 6899 |
| Uniprot | O43435, |
| Species.1 | Mouse |
| Gene ID.1 | |
| Uniprot.1 | P70323 |
| Species.2 | |
| Gene ID.2 | |
| Uniprot.2 | |
| Cellular Localization | Nucleus . |
| Tissue Expression | Skeletal muscle,Testis, |
| Signaling_pathway | |
| Research Areas | |
| Function | Disease:Defects in TBX1 are a cause of conotruncal heart malformations (CTHM) [MIM:217095]. CTHM consist of cardiac outflow tract defects, such as tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, truncus arteriosus communis, and aortic arch anomalies.,Disease:Defects in TBX1 are a cause of DiGeorge syndrome (DGS) [MIM:188400].,Disease:Defects in TBX1 are a cause of velocardiofacial syndrome (VCFS) [MIM:192430].,Disease:Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) [MIM:188400, 192430]. DGS is characterized by the association of several malformations: hypoplastic thymus and parathyroid glands, congenital conotruncal cardiopathy, and a subtle but characteristic facial dysmorphology. VCFS is marked by the association of congenital conotruncal heart defects, cleft palate or velar insufficiency, facial dysmorpholgy and learning difficulties. It is now accepted that these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life.,Function:Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries.,similarity:Contains 1 T-box DNA-binding domain., |
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