Published Applications
| IHC | See 1 publications below |
| IF | See 1 publications below |
Product Information
10117-1-AP targets EXT1 in IF, IHC, ELISA applications and shows reactivity with human, mouse, rat samples.
| Tested Reactivity | human, mouse, rat |
| Cited Reactivity | mouse |
| Host / Isotype | Rabbit / IgG |
| Class | Polyclonal |
| Type | Antibody |
| Immunogen | EXT1 fusion protein Ag0171 Predict reactive species |
| Full Name | exostoses (multiple) 1 |
| Calculated Molecular Weight | 86 kDa |
| GenBank Accession Number | BC001174 |
| Gene Symbol | EXT1 |
| Gene ID (NCBI) | 2131 |
| Conjugate | Unconjugated |
| Form | Liquid |
| Purification Method | Antigen affinity purification |
| UNIPROT ID | Q16394 |
| Storage Buffer | PBS with 0.02% sodium azide and 50% glycerol , pH 7.3 |
| Storage Conditions | Store at -20°C. Stable for one year after shipment. Aliquoting is unnecessary for -20oC storage. 20ul sizes contain 0.1% BSA. |
Background Information
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.
Publications
| Species | Application | Title |
|---|---|---|
Am J Physiol Gastrointest Liver Physiol Altered gastric chief cell lineage differentiation in histamine-deficient mice. |
