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From Proteopedia
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== Disease == | == Disease == | ||
| - | + | [https://www.uniprot.org/uniprot/EXT1_HUMAN EXT1_HUMAN] Chondrosarcoma;Multiple osteochondromas;Trichorhinophalangeal syndrome type 2. The disease is caused by variants affecting the gene represented in this entry. The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients. The disease is caused by variants affecting the gene represented in this entry. | |
== Function == | == Function == | ||
| - | + | [https://www.uniprot.org/uniprot/EXT1_HUMAN EXT1_HUMAN] Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).<ref>PMID:11518722</ref> <ref>PMID:22660413</ref> | |
== References == | == References == | ||
<references/> | <references/> | ||
Revision as of 07:42, 18 January 2023
Cryo-EM structure of the human Exostosin-1 and Exostosin-2 heterodimer in complex with UDP-GlcA
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