epitope mapping within an internal region of EXT1 of human origin
recommended for detection of EXT1 of mouse, rat and human origin by WB, IF and ELISA; also reactive with additional species, including equine and bovine
EXT1 Background Information Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by the formation of exostoses (EXT), which are cartilage-capped bony protuberances mainly located on long bones (1). Two proteins associated with EXT, EXT1 and EXT2, form homo/heteromeric complexes in vivo, which leads to the accumulation of both proteins in the Golgi apparatus (2,3). EXT1 and EXT2 are endoplasmic reticulum-localized type II transmembrane glycoproteins that possess, or are tightly associated with, glycosyltransferase activities involved in the polymerization of the glycosaminoglycan, heparan sulfate (HS) (3). EXT2 is a protein that harbors the D-glucuronyl (GlcA) and N-acetyl-D-glucosaminyl (GlcNAc) transferase activities required for biosynthesis of HS (4). EXT1 rescues defective HS biosynthesis and elevates low GlcA and GlcNAc transferase levels in mutated cells (5).
