验证数据展示
发表文章中的应用
| IHC | See 1 publications below |
| IF | See 1 publications below |
产品信息
10117-1-AP targets EXT1 in IF, IHC, ELISA applications and shows reactivity with human, mouse, rat samples.
| 经测试应用 | ELISA Application Description |
| 文献引用应用 | IF, IHC |
| 经测试反应性 | human, mouse, rat |
| 文献引用反应性 | mouse |
| 免疫原 | EXT1 fusion protein Ag0171 种属同源性预测 |
| 宿主/亚型 | Rabbit / IgG |
| 抗体类别 | Polyclonal |
| 产品类型 | Antibody |
| 全称 | exostoses (multiple) 1 |
| 别名 | exostoses (multiple) 1, Exostosin 1, EXT, EXT1, LGCR, LGS, Multiple exostoses protein 1, TRPS2, ttv |
| 计算分子量 | 86 kDa |
| GenBank蛋白编号 | BC001174 |
| 基因名称 | EXT1 |
| Gene ID (NCBI) | 2131 |
| 偶联类型 | Unconjugated |
| 形式 | Liquid |
| 纯化方式 | Antigen affinity purification |
| UNIPROT ID | Q16394 |
| 储存缓冲液 | PBS with 0.02% sodium azide and 50% glycerol , pH 7.3 |
| 储存条件 | Store at -20°C. Stable for one year after shipment. Aliquoting is unnecessary for -20oC storage. |
背景介绍
Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of cartilage-capped tumors (exostoses) that develop from the growth plate of endochondral bone. This condition can lead to skeletal abnormalities, short stature and malignant transformation of exostoses to chondrosarcomas or osteosarcomas. Linkage analyses have identified three different genes for EXT, EXT1 on 8q24.1, EXT2 on 11p11-13 and EXT3 on 19p, a family of tumor suppressor genes. Most EXT cases have been attributed to missense or frameshift mutations, which lead to loss of function of the EXT genes. EXT1 is an ER-resident type II transmembrane glycoprotein and a heparan sulphate polymerase with both D-glucuronyl and N-acetyl-D-glucosaminoglycan transferase activities. Expression of EXT1 in cells results in the alteration of the synthesis and display of cell surface heparan sulfate glycosaminoglycans. EXT1 mutations have been identified in multiple types of human tumors.