Invitrogen™ EXT1 Polyclonal Antibody

Description

Positive Samples: K-562, SW480, PC-3, Mouse liver, Mouse lung Immunogen sequence: YYYANLGLKP PSKFTAVIHA VTPLVSQSQP VLKLLVAAAK SQYCAQIIVL WNCDKPLPAK HRWPATAVPV VVIEGESKVM SSRFLPYDNI ITDAVLSLDE DTVLSTTEVD FAFTVWQSFP ERIVGYPARS HFWDNSKERW GYTSKWTNDY SMVLTGAAIY HKYYHYLYSH YLPASLKNMV DQLANCEDIL MNFLVSAVTK LPPIKVTQKK QYKETMMGQT SRASRWADPD HFAQRQSCMN TFASWFGYMP LIHSQMRLDP VLFKDQVSIL RKKYRDIERL.

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. 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. 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). EXT2 is a protein that harbors the D-glucuronyl (GlcA) and N-acetyl-D-glucosaminyl (GlcNAc) transferase activities required for biosynthesis of HS. EXT1 rescues defective HS biosynthesis and elevates low GlcA and GlcNAc transferase levels in mutated cells.