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EXT2 gene

exostosin glycosyltransferase 2

Key facts

Official symbol
EXT2
Full name
EXT2
Chromosome
11
Map location
11p11.2
Organism
Homo sapiens
NCBI Gene ID
2132
Also known as
SOTV, SSMS

Function summary

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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Data source: NCBI Gene · alsesAI Gene Library