Gene Symbol | EXT2 |
Entrez Gene ID | 2132 |
Full Name | exostosin glycosyltransferase 2 |
Synonyms | SOTV,SSMS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Exostoses, multiple, type 2, 133701 (3); ?Seizures, scoliosis, and macrocephaly syndrome, 616682 (3) |