Rabbit anti-Human Brachyury Polyclonal Antibody | anti-TBX1 antibody
Brachyury antibody
WB: 1:500-1:1,000
NCBI and Uniprot Product Information
NCBI 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, Jul 2008]
Uniprot Description
TBX1: Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries. Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). 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. Defects in TBX1 are a cause of DiGeorge syndrome (DGS). Defects in TBX1 are a cause of velocardiofacial syndrome (VCFS). Defects in TBX1 are a cause of conotruncal heart malformations (CTHM). 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. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 22q11.21
Cellular Component: nucleus
Molecular Function: protein dimerization activity; protein homodimerization activity; DNA binding; sequence-specific DNA binding; transcription factor activity
Biological Process: heart morphogenesis; retinoic acid receptor signaling pathway; muscle development; heart development; positive regulation of transcription, DNA-dependent; muscle cell fate commitment; cell fate specification; ear morphogenesis; middle ear morphogenesis; anterior/posterior pattern formation; sensory perception of sound; positive regulation of MAPKKK cascade; epithelial cell differentiation; positive regulation of mesenchymal cell proliferation; positive regulation of cell proliferation; thyroid gland development; mesoderm development; angiogenesis; muscle morphogenesis; neural crest cell migration; blood vessel development; tongue morphogenesis; inner ear morphogenesis; pharyngeal system development; thymus development; transcription, DNA-dependent; outer ear morphogenesis; semicircular canal morphogenesis; embryonic viscerocranium morphogenesis; embryonic cranial skeleton morphogenesis; social behavior; pattern specification process; parathyroid gland development; odontogenesis of dentine-containing teeth; regulation of transcription from RNA polymerase II promoter; cell proliferation; negative regulation of cell differentiation; blood vessel morphogenesis; artery morphogenesis; positive regulation of transcription from RNA polymerase II promoter; blood vessel remodeling; positive regulation of protein amino acid phosphorylation; soft palate development; lymph vessel development; determination of left/right symmetry; vagus nerve morphogenesis; positive regulation of epithelial cell proliferation
Disease: Conotruncal Heart Malformations; Digeorge Syndrome; Velocardiofacial Syndrome; Tetralogy Of Fallot
Research Articles on TBX1
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Product Notes
The TBX1 tbx1 (Catalog #AAA536131) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The Brachyury antibody reacts with Human and may cross-react with other species as described in the data sheet. AAA Biotech's Brachyury can be used in a range of immunoassay formats including, but not limited to, Immunohistochemistry (IHC), Western Blot (WB). IHC: 1:100-1:250 WB: 1:500-1:1,000. Researchers should empirically determine the suitability of the TBX1 tbx1 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "Brachyury, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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