Anti-EXT1抗体This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate

产品编号 yb-14674R
英文名称 Anti-EXT1抗体
中文名称 多发性外生骨疣蛋白1抗体
别    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.
Anti-EXT1抗体   
说 明 书 0.2ml  
研究领域 肿瘤  细胞生物  信号转导  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Mouse, Rat, Chicken, Cow, Horse, Rabbit, Baboon, Chinese Hamster, Orangutan
产品应用 WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 86kDa
性    状 Lyophilized or Liquid
浓    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human EXT1
亚    型 IgG
纯化方法 affinity purified by Protein A
储 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件 Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.

PubMed PubMed
产品介绍 background:
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.