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Rabbit Anti-TBX1  antibody (bs-21502R)  
~~~促銷代碼KT202411~~~
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產品編號 bs-21502R
英文名稱 Rabbit Anti-TBX1  antibody
中文名稱 先心病相關蛋白TBX1抗體
別    名 CAFS; CTHM; DGCR; DGS; DORV; T box 1; T box 1 transcription factor; T box 1 transcription factor C; T box; T box protein 1; T box transcription factor TBX 1; T box transcription factor TBX1; T-box 1; T-box protein 1; T-box transcription factor TBX1; TBX 1; TBX 1C; tbx1; TBX1_HUMAN; TBX1C; Testis specific T box protein; Testis-specific T-box protein; TGA; VCFS.  
研究領域 心血管  細胞生物  免疫學  神經生物學  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應 Mouse (predicted: Human,Rat,Rabbit,Pig,Sheep,Horse)
產品應用 WB=1:500-2000
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
理論分子量 43kDa
細胞定位 細胞核 
性    狀 Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human TBX1: 271-370/398 
亞    型 IgG
純化方法 affinity purified by Protein A
緩 沖 液 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存條件 Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事項 This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed PubMed
產品介紹 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].

Function:
Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries. Subunit : Interacts with DSCR6.

Subunit:
Interacts with DSCR6.

Subcellular Location:
Nucleus.

DISEASE:
Note=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.
DiGeorge syndrome (DGS) [MIM:188400]: A congenital syndrome characterized by a wide spectrum of characteristics including parathyroid hypoplasia resulting in hypocalcemia, thymic hypoplasia resulting in T-cell immunodeficiency, defects in the outflow tract of the heart, and craniofacial anomalies. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Note=The disease is caused by mutations affecting the gene represented in this entry.
Velocardiofacial syndrome (VCFS) [MIM:192430]: A syndrome characterized by abnormal pharyngeal arch development that results in defective development of the parathyroid glands, thymus, and conotruncal region of the heart. The phenotype is highly variable, with no single clinical feature present in every patient. Affected individuals may present with structural or functional palatal abnormalities, cardiac defects, unique facial characteristics, hypernasal speech, hypotonia, and defective thymic development associated with impaired immune function. In addition, affected individuals may present with learning disabilities, overt developmental delay, and psychiatric disorders. Note=The disease is caused by mutations affecting the gene represented in this entry.
Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle. Note=The disease is caused by mutations affecting the gene represented in this entry.

Similarity:
Contains 1 T-box DNA-binding domain.

SWISS:
O43435

Gene ID:
6899

Database links:

Entrez Gene: 6899 Human

Entrez Gene: 21380 Mouse

Entrez Gene: 360737 Rat

Omim: 602054 Human

SwissProt: O43435 Human

SwissProt: P70323 Mouse

Unigene: 173984 Human

Unigene: 295194 Mouse

Unigene: 41347 Rat



產品圖片
Sample: Testis (Mouse) Lysate at 40 ug Primary: Anti-TBX1 (bs-21502R) at 1/1000 dilution Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution Predicted band size: 43 kD Observed band size: 43 kD
Sample: Lung (Mouse) Lysate at 40 ug Primary: Anti-TBX1 (bs-21502R) at 1/1000 dilution Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution Predicted band size: 43 kD Observed band size: 43 kD
Sample: Lymph node (Mouse) Lysate at 40 ug Primary: Anti- TBX1 (bs-21502R) at 1/1000 dilution Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution Predicted band size: 43 kD Observed band size: 41'43 kD
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