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重要规格表
品种反应性 主要应用 宿主 格式 抗体类型 H WB Rb Purified Polyclonal Antibody 描述 产品目录编号 AB15624 品牌系列 Chemicon®
商名 - Chemicon
描述 Anti-Tbx1 Antibody Alternate Names - T-box 1
背景信息 The T-box 1 protein appears to be necessary for the normal development of large arteries that carry blood out of the heart, muscles and bones of the face and neck, and glands such as the thymus and parathyroid. Although the T-box 1 protein acts as a transcription factor, it is not yet known which genes are regulated by the protein. 产品信息 格式 Purified 演示 Liquid in PBS with 0.02% sodium azide. 应用 应用 Anti-Tbx1 Antibody is a Rabbit Polyclonal Antibody for detection of Tbx1 also known as T-box 1 & has been validated in WB. 主要应用 - Western Blotting
生物信息 免疫原品种 Synthetic peptide from human Tbx1. 宿主 Rabbit 特异性 Tbx1 (T-box 1). 品种反应性 Human Species Reactivity Note Human. Other species have not been tested. The immunogen sequence has 76% homology with mouse. 抗体类型 Polyclonal Antibody Entrez基因编号 - NM_080647.1
- NM_005992.1
- NM_080646.1
Entrez基因汇总 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. 基因符号 - DGCR
- TBX1
- CTHM
- VCFS
- brachyury
- TGA
- TBX1C
- DGS
- DORV
- CAFS
纯化方法 Immunoaffinity purified UniProt编号 - O43435
UniProt汇总 FUNCTION: SwissProt: O43435 # Probable transcriptional regulator involved in developmental processes. Is required for normal development of the pharyngeal arch arteries (By similarity).
SIZE: 398 amino acids; 43133 Da
SUBCELLULAR LOCATION: Nucleus (Potential).
DISEASE: SwissProt: O43435 # Haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) [MIM:188400, 192430]. 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) [MIM:188400]. & Defects in TBX1 are a cause of velocardiofacial syndrome (VCFS) [MIM:192430]. & Defects in TBX1 are a cause of conotruncal heart malformations (CTHM) [MIM:217095]. 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.
SIMILARITY: SwissProt: O43435 ## Contains 1 T-box DNA-binding domain.产品使用声明 使用声明 - Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
储存和货运信息 存储条件 6 months at -20°C from date of shipment 包装信息 数量 100 µg
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