| Protein Name | exostosin glycosyltransferase 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 2131 |
| Gene Symbol | EXT1 |
| UniProt | Q16394 (EXT1_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
57
Total Number of Articles : 104 |
Description |
exostosin glycosyltransferase 1 |
| Gene Summary |
This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008] |
| synonyms |
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| Properties | |