EXT2( Human )

Entrez Gene 2132 Entrez Gene 2132
exostosin glycosyltransferase 2

Alias

SOTV|SSMS

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. [provided by RefSeq, Jul 2008].

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