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TBX1 Antibody (PACO01589)

SKU:
PACO01589
Product Type:
Antibody
Reactivity:
Human
Host Species:
Rabbit
Isotype:
IgG
Applications:
ELISA
WB
IHC
IF
Antibody Type:
Polyclonal Antibody
Conjugation:
Unconjugated
€269
Frequently bought together:

Description

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TBX1 Antibody (PACO01589)

The TBX1 Polyclonal Antibody (PACO01589) is a valuable tool for researchers studying the TBX1 protein, which plays a key role in development and disease. This antibody, generated in rabbits, exhibits high reactivity with human samples and has been validated for use in various applications, including Western blotting.TBX1 is a transcription factor that is essential for normal development of the heart, thymus, and parathyroid glands. Mutations in the TBX1 gene are associated with DiGeorge syndrome, a genetic disorder characterized by congenital heart defects and developmental delays.

Research into the function of TBX1 is crucial for understanding the molecular mechanisms underlying these conditions and may lead to the development of new diagnostic and therapeutic strategies.By using the TBX1 Polyclonal Antibody, researchers can detect and analyze TBX1 protein levels in different cell types, providing insights into its role in development and disease. This antibody is a valuable tool for studies in developmental biology, genetics, and molecular medicine, offering new opportunities for advancing our understanding of TBX1-related disorders.

Antibody Name:TBX1 Antibody
Antibody SKU:PACO01589
Size:50ug
Host Species:Rabbit
Tested Applications:ELISA, WB, IHC, IF
Recommended Dilutions:WB:1:500-1:2000, IHC:1:100-1:300, IF:1:200-1:1000
Species Reactivity:Human
Immunogen:synthesized peptide derived from the C-terminal region of human TBX1.
Form:Liquid
Storage Buffer:Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Purification Method:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Clonality:Polyclonal
Isotype:IgG
Conjugate:Non-conjugated
Synonyms:TBX1; T-box transcription factor TBX1; T-box protein 1; Testis-specific T-box protein
UniProt Protein Function: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.
UniProt Protein Details:

Protein type:DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 22q11.21

Cellular Component: nucleus

Molecular Function:DNA binding; protein dimerization activity; protein homodimerization activity; sequence-specific DNA binding; transcription factor activity

Biological Process: angiogenesis; anterior/posterior pattern formation; artery morphogenesis; blood vessel development; blood vessel morphogenesis; blood vessel remodeling; 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 development; muscle morphogenesis; 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 MAPKKK cascade; positive regulation of mesenchymal cell proliferation; positive regulation of protein amino acid phosphorylation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; 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

NCBI Summary: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 Code:O43435
NCBI GenInfo Identifier:6175055
NCBI Gene ID:6899
NCBI Accession:O43435.1
UniProt Secondary Accession:O43435,O43436, Q96RJ2, C6G493, C6G494,
UniProt Related Accession:O43435
Molecular Weight:52,666 Da
NCBI Full Name:T-box transcription factor TBX1
NCBI Synonym Full Names:T-box 1
NCBI Official Symbol:TBX1  
NCBI Official Synonym Symbols:DGS; TGA; VCF; CAFS; CTHM; DGCR; DORV; VCFS; TBX1C; CATCH22  
NCBI Protein Information:T-box transcription factor TBX1
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  
UniProt Entry Name:TBX1_HUMAN

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