产品详情
简单介绍：
Anti-EXT1 Antibody
详情介绍：
Overview
| Name: | Anti-EXT1 Antibody See all EXT1 primary antibodies
|
| Description: | Rabbit polyclonal antibody to EXT1 |
| Specificity: | The antibody detects endogenous level of total EXT1 protein. |
| Applications: | WB, IHC |
| Reactivity: | Human, Mouse, Rat |
| Immunogen: | Recombinant protein of human EXT1. |
| Host: | Rabbit |
| Clonality: | Polyclonal |
| Conjugate: | Unconjugated |
| Purification: | Antibodies were purified by affinity purification using immunogen. |
| Concentration: | 1.0mg / ml |
| Formulation: | Supplied at 1.0mg / mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol. |
| Storage: | Store at -20?C |
Target
| Function: | Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). |
| Tissue Specificity: | Ubiquitous. |
| Involvement in Disease: | Hereditary multiple exostoses 1: EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event. Tricho-rhino-phalangeal syndrome 2: A syndrome that combines the clinical features of tricho-rhino-phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. Chondrosarcoma: A malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. |
| Sequence Similarities: | Belongs to the glycosyltransferase 47 family. |
| Cellular Location: | Endoplasmic reticulum membrane. Golgi apparatus membrane. The EXT1/EXT2 complex is localized in the Golgi apparatus. |
| Database Links: |
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| Synonyms: | |
| Information: | Target information shown above is from the UniProt Consortium. |
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