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anti-TBX1 antibody :: Rabbit anti-Human TBX1 Antibody

Scan QR to view Datasheet Catalog #    MBS002410 anti-TBX1 antibody
Unit / Price
0.05 mL  /  $270 +1 FREE 8GB USB
0.1 mL  /  $445 +1 FREE 8GB USB
 
 Go to:   rightarrow  Product Names   rightarrow Product Info   rightarrow Accession #s   rightarrow Product Desc   rightarrow Diseases/Tissues/Pathways   rightarrow Applications   rightarrow References 
 Product Name   

TBX1, Antibody

 Also Known As   

Rabbit TBX1 Antibody

 Product Gene Name   

anti-TBX1 antibody

[Similar Products]
 Research Use Only    For Research Use Only. Not for use in diagnostic procedures.
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 Chromosome Location    Chromosome: 22; NC_000022.10 (19744226..19771116). Location: 22q11.21
 OMIM    188400
 3D Structure    ModBase 3D Structure for O43435
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 Host    Rabbit
 Species Reactivity    Human
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 Form/Format    Phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol
 Concentration    1 mg/ml (lot specific)
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 Other Notes    Small volumes of anti-TBX1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
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 Applications Tested/Suitable for anti-TBX1 antibody   

ELISA (EIA), Immunofluorescence (IF), Western Blot (WB)

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NCBI/Uniprot data below describe general gene information for TBX1. It may not necessarily be applicable to this product.
 NCBI GI #    5174711
 NCBI GeneID    6899
 NCBI Accession #    NP_005983.1 [Other Products]
 NCBI GenBank Nucleotide #    NM_005992.1 [Other Products]
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 UniProt Primary Accession #    O43435 [Other Products]
 UniProt Secondary Accession #    O43436; Q96RJ2; C6G493; C6G494 [Other Products]
 UniProt Related Accession #    O43435 [Other Products]
 Molecular Weight    43,133 Da
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 NCBI Official Full Name    T-box transcription factor TBX1 isoform B
 NCBI Official Synonym Full Names    T-box 1
 NCBI Official Symbol    TBX1 [Similar Products]
 NCBI Official Synonym Symbols   
DGS; TGA; CAFS; CTHM; DGCR; DORV; VCFS; TBX1C
[Similar Products]
 NCBI Protein Information    T-box transcription factor TBX1; brachyury; Testis-specific T-box protein; T-box 1 transcription factor C
 UniProt Protein Name    T-box transcription factor TBX1
 UniProt Synonym Protein Names   
Testis-specific T-box protein
 Protein Family    T-box transcription factor
 UniProt Gene Name    TBX1 [Similar Products]
 UniProt Synonym Gene Names    T-box protein 1 [Similar Products]
 UniProt Entry Name    TBX1_HUMAN
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 NCBI Summary for TBX1    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]
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 UniProt Comments for TBX1    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; positive regulation of transcription, DNA-dependent; heart development; muscle cell fate commitment; cell fate specification; middle ear morphogenesis; ear morphogenesis; anterior/posterior pattern formation; sensory perception of sound; epithelial cell differentiation; positive regulation of MAPKKK cascade; positive regulation of cell proliferation; positive regulation of mesenchymal cell proliferation; thyroid gland development; mesoderm development; angiogenesis; muscle morphogenesis; neural crest cell migration; blood vessel development; inner ear morphogenesis; tongue morphogenesis; pharyngeal system development; thymus development; transcription, DNA-dependent; outer ear morphogenesis; semicircular canal morphogenesis; embryonic cranial skeleton morphogenesis; embryonic viscerocranium morphogenesis; social behavior; parathyroid gland development; pattern specification process; 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; blood vessel remodeling; positive regulation of transcription from RNA polymerase II promoter; positive regulation of protein amino acid phosphorylation; soft palate development; determination of left/right symmetry; lymph vessel development; vagus nerve morphogenesis; positive regulation of epithelial cell proliferation

Disease: Conotruncal Heart Malformations; Digeorge Syndrome; Velocardiofacial Syndrome; Tetralogy Of Fallot
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 Research Articles on TBX1    1. The sequence variants within TBX1 gene promoter may contribute to the ventricular septal defect etiology by altering the expression levels of TBX1 gene.
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 Precautions    All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
 Disclaimer    While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.

It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
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Pathways associated with anti-TBX1 antibodyDiseases associated with anti-TBX1 antibody
 Products by Pathway  Pathway Diagram
 Heart Development Pathway antibodies  Heart Development Pathway Diagram
 Disease Name  Pubmed Publications
 DiGeorge Syndrome Antibodies  >141 publications with TBX1 and DiGeorge Syndrome
 Heart Defects, Congenital Antibodies  >130 publications with TBX1 and Heart Defects, Congenital
 Cardiovascular Abnormalities Antibodies  >128 publications with TBX1 and Cardiovascular Abnormalities
 Craniofacial Abnormalities Antibodies  >109 publications with TBX1 and Craniofacial Abnormalities
 Lymphatic Diseases Antibodies  >96 publications with TBX1 and Lymphatic Diseases
 Disease Models, Animal Antibodies  >36 publications with TBX1 and Disease Models, Animal
 Neoplasms Antibodies  >6 publications with TBX1 and Neoplasms
 Learning Disorders Antibodies  >5 publications with TBX1 and Learning Disorders
 CONOTRUNCAL HEART MALFORMATIONS Antibodies  >5 publications with TBX1 and CONOTRUNCAL HEART MALFORMATIONS
 Neurobehavioral Manifestations Antibodies  >5 publications with TBX1 and Neurobehavioral Manifestations
Organs/Tissues associated with anti-TBX1 antibody
 Organ/Tissue Name  Pubmed Publications
 Embryonic Tissue Antibodies  >74 publications with TBX1 and Embryonic Tissue
 Muscle Antibodies  >64 publications with TBX1 and Muscle
 Brain Antibodies  >15 publications with TBX1 and Brain
 Mouth Antibodies  >9 publications with TBX1 and Mouth
 Lung Antibodies  >4 publications with TBX1 and Lung
 Ovary Antibodies  >1 publications with TBX1 and Ovary
 Testis Antibodies  >1 publications with TBX1 and Testis
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