| 產(chǎn)品編號 | bs-14674R |
| 英文名稱 | EXT1 Rabbit pAb |
| 中文名稱 | 多發(fā)性外生骨疣蛋白1抗體 |
| 別 名 | 4-alpha-N-acetylglucosaminyltransferase; exostoses(multiple) 1; Exostosin 1; Exostosin-1; EXT1; EXT1_HUMAN; Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan; Langer-Giedion syndrome chromosome region; LGCR; LGS; Multiple exostoses protein 1; Multiple exostoses protein 1 homolog; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase; Putative tumor suppressor protein EXT1; TRPS2; TTV. |
| 研究領(lǐng)域 | 腫瘤 細(xì)胞生物 信號轉(zhuǎn)導(dǎo) |
| 抗體來源 | Rabbit |
| 克隆類型 | Polyclonal |
| 克 隆 號 | |
| 交叉反應(yīng) | (predicted: Human,Mouse,Rat,Rabbit,Cow,Chicken,Horse,Baboon,Chinese Hamster, Orangutan) |
| 產(chǎn)品應(yīng)用 | IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500,ICC/IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 理論分子量 | 86 kDa |
| 檢測分子量 | |
| 細(xì)胞定位 | 細(xì)胞漿 |
| 性 狀 | Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human EXT1: 651-746/746 |
| 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(chǎn)品介紹 |
This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008] 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. Subcellular Location: Endoplasmic reticulum membrane. Golgi apparatus membrane. The EXT1/EXT2 complex is localized in the Golgi apparatus. Tissue Specificity: Ubiquitous. DISEASE: Defects in EXT1 are a cause of hereditary multiple exostoses type 1 (EXT1) [MIM:133700]. 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. Defects in EXT1 are a cause of tricho-rhino-phalangeal syndrome type 2 (TRPS2) [MIM:150230]. A syndrome that combines the clinical features of trichorhinophalangeal 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. Note=A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients. Defects in EXT1 are a cause of chondrosarcoma (CHDSA) [MIM:215300]. It is a malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. Similarity: Belongs to the glycosyltransferase 47 family. SWISS: Q16394 Gene ID: 2131 Database links: Entrez Gene: 2131 Human Entrez Gene: 14042 Mouse Omim: 608177 Human SwissProt: Q9JK82 Chinese Hamster SwissProt: Q16394 Human SwissProt: P97464 Mouse SwissProt: Q5RBC3 Orangutan Unigene: 492618 Human Unigene: 309395 Mouse |
