Sequence of this protein is as follows: GFSTWTYRQG YDVSIPVYSP LSAEVDLPEK GPGPRQYFLL SSQVGLHPEY REDLEALQVK HGESVLVLDK CTNLSEGVLS VRKRCHKHQV FDYPQVLQEA
This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.
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Protein Aliases: acetylglucosaminyltransferase; Exostosin-2; Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N; Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Multiple exostoses protein 2; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase; Putative tumor suppressor protein EXT2
Gene Aliases: EXT2; SOTV; SSMS
UniProt ID: (Human) Q93063
Entrez Gene ID: (Human) 2132
Molecular Function: glycosyltransferase