TBX1 Antibody (C-term)
Affinity Purified Rabbit Polyclonal Antibody (Pab)
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Application
| WB, IF, IHC-P, E |
|---|---|
| Primary Accession | O43435 |
| Reactivity | Human |
| Host | Rabbit |
| Clonality | Polyclonal |
| Isotype | Rabbit IgG |
| Calculated MW | 43133 Da |
| Antigen Region | 327-356 aa |
| Gene ID | 6899 |
|---|---|
| Other Names | T-box transcription factor TBX1, T-box protein 1, Testis-specific T-box protein, TBX1 |
| Target/Specificity | This TBX1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 327-356 amino acids from the C-terminal region of human TBX1. |
| Dilution | WB~~1:1000 IF~~1:10~50 IHC-P~~1:100~500 E~~Use at an assay dependent concentration. |
| Format | Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification. |
| Storage | Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles. |
| Precautions | TBX1 Antibody (C-term) is for research use only and not for use in diagnostic or therapeutic procedures. |
| Name | TBX1 {ECO:0000303|PubMed:9268629, ECO:0000312|HGNC:HGNC:11592} |
|---|---|
| Function | Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development (By similarity). Also involved in craniofacial muscle development (By similarity). Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2 (By similarity). Acts upstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch (By similarity). Required for hair follicle stem cell self-renewal (By similarity). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence (PubMed:11111039, PubMed:22095455). |
| Cellular Location | Nucleus {ECO:0000255|PROSITE-ProRule:PRU00201}. |
For Research Use Only. Not For Use In Diagnostic Procedures.
Provided below are standard protocols that you may find useful for product applications.
BACKGROUND
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.
REFERENCES
Fernando, R.I., et al. J. Clin. Invest. 120(2):533-544(2010)
Heike, C.L., et al. Birth Defects Res. Part A Clin. Mol. Teratol. 88(1):54-63(2010)
Beaujard, M.P., et al. Eur J Med Genet 52(5):321-327(2009)
Shalaby, A.A., et al. Mod. Pathol. 22(8):996-1005(2009)
Yamagishi, H., et al. Genes Dev. 17(2):269-281(2003)
Gong, W., et al. J. Med. Genet. 38 (12), E45 (2001) :
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