Testing Data
(The TFact TBX1 DNA-Binding ELISA detects active TBX1 in Hela Nuclear Extract. The Hela cells were grown 3 days in DMEM with 10% FBS and harvested for nuclear extract. The Hela cells were stimulated by PMA (200nM) before harvest.)
Human TBX1 ELISA Kit | TBX1 elisa kit
TBX1 TFact DNA-Binding ELISA Kit
Testing Data
(The TFact TBX1 DNA-Binding ELISA detects active TBX1 in Hela Nuclear Extract. The Hela cells were grown 3 days in DMEM with 10% FBS and harvested for nuclear extract. The Hela cells were stimulated by PMA (200nM) before harvest.)
Testing Data
(The TFact TBX1 DNA-Binding ELISA detects active TBX1 in Hela Nuclear Extract. The Hela cells were grown 3 days in DMEM with 10% FBS and harvested for nuclear extract. The Hela cells were stimulated by PMA (200nM) before harvest.)
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: DNA binding transcription factor activity; protein homodimerization activity; sequence-specific DNA binding
Biological Process: angiogenesis; anterior/posterior pattern specification; artery morphogenesis; blood vessel development; blood vessel morphogenesis; cell fate specification; cell proliferation; determination of left/right symmetry; ear morphogenesis; embryonic cranial skeleton morphogenesis; embryonic viscerocranium morphogenesis; epithelial cell differentiation; heart development; heart morphogenesis; inner ear morphogenesis; lymph vessel development; mesoderm development; middle ear morphogenesis; muscle cell fate commitment; muscle morphogenesis; muscle organ development; negative regulation of cell differentiation; neural crest cell migration; odontogenesis of dentine-containing teeth; outer ear morphogenesis; parathyroid gland development; pattern specification process; pharyngeal system development; positive regulation of cell proliferation; positive regulation of epithelial cell proliferation; positive regulation of MAPK cascade; positive regulation of mesenchymal cell proliferation; positive regulation of protein phosphorylation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-templated; regulation of transcription from RNA polymerase II promoter; retinoic acid receptor signaling pathway; semicircular canal morphogenesis; sensory perception of sound; social behavior; soft palate development; thymus development; thyroid gland development; tongue morphogenesis; transcription, DNA-dependent; vagus nerve morphogenesis
Disease: Conotruncal Heart Malformations; Digeorge Syndrome; Tetralogy Of Fallot; Velocardiofacial Syndrome
Research Articles on TBX1
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Product Notes
The Human TBX1 tbx1 (Catalog #AAA9502262) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9502262 ELISA Kit recognizes Human TBX1. It is sometimes possible for the material contained within the vial of "TBX1, ELISA Kit" 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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