Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Sequence of this protein is as follows: GERGFLKFNT IPPLRKYMLV FKGKRYLTGI GSDTRNALYH VHNGEDVVLL TTCKHGKDWQ KHKDSRCDRD NTEYEKYDYR EMLHNATFCL VPRGRRLGSF
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: exostoses (multiple) 1; exostosin 1; Exostosin glycosyltransferase 1; Exostosin-1; Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Heparan sulfate co-polymerase subunit EXT1; Langer-Giedion syndrome chromosome region; Multiple exostoses protein 1; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase; putative tumor suppressor protein EXT1
Gene Aliases: EXT; EXT1; LGCR; LGS; TRPS2; TTV
UniProt ID: (Human) Q16394
Entrez Gene ID: (Human) 2131
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