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TBX1 Antibody (C-term) Blocking Peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
| Primary Accession | O43435 |
|---|
| Gene ID | 6899 |
|---|---|
| Other Names | T-box transcription factor TBX1, T-box protein 1, Testis-specific T-box protein, TBX1 |
| Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
| Storage | Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C. |
| Precautions | This product is for research use only. 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}. |
Thousands of laboratories across the world have published research that depended on the performance of antibodies from Abcepta to advance their research. Check out links to articles that cite our products in major peer-reviewed journals, organized by research category.
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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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