1/50 - 1/100. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol.
功能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.
通路Protein modification; protein glycosylation.
疾病相关Defects in EXT2 are a cause of hereditary multiple exostoses type 2 (EXT2) [MIM:133701]. 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 EXT2 are the cause of Potocki-Shaffer syndrome (PSS) [MIM:601224]. It is a contiguous gene syndrome due to proximal deletion of chromosome 11p11.2, including EXT2 and ALX4.
序列相似性Belongs to the glycosyltransferase 47 family.
细胞定位Endoplasmic reticulum membrane. Golgi apparatus membrane. The EXT1/EXT2 complex is localized in the Golgi apparatus.