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Immunogen sequence: EDVGFDIGQA MLAKASISTE NFRPNFDVSI PLFSKDHPRT GGERGFLKFN TIPPLRKYML VFKGKRYLTG IGSDTRNALY HVHNGEDVVL LTTCKHGKDW QKHKDSRCDR DNTEYEKYDY REMLHNATFC L
Highest antigen sequence identity to the following orthologs: Mouse - 99%, Rat - 99%.
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.
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