84-5197-83　EXT1 100ul　522814

特徴

• 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.
• Applications:Suitable for use in Western Blot, Immunohistochemistry and ELISA.
• Other applications not tested.
• Recommended Dilution:Western Blot: 1:500-1:2000, incubate membrane with diluted primary antibody in TBS, 5% milk, 0.1% Tween 20 at 4°C with gentle shaking, overnight
• Immunohistochemistry: 1:50-1:200ELISA (peptide): 1:20,000-1:40,000Optimal dilutions to be determined by the researcher.
• Storage and Stability:May be stored at 4°C for short-term only.
• Aliquot to avoid repeated freezing and thawing.
• Store at -20°C.
• Aliquots are stable for 12 months after receipt.
• For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.