7sck

Structural highlights

Disease

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

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).^{[1] [2]}

References

1. ↑ Duncan G, McCormick C, Tufaro F. The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins. J Clin Invest. 2001 Aug;108(4):511-6. doi: 10.1172/JCI13737. PMID:11518722 doi:http://dx.doi.org/10.1172/JCI13737
2. ↑ Baietti MF, Zhang Z, Mortier E, Melchior A, Degeest G, Geeraerts A, Ivarsson Y, Depoortere F, Coomans C, Vermeiren E, Zimmermann P, David G. Syndecan-syntenin-ALIX regulates the biogenesis of exosomes. Nat Cell Biol. 2012 Jun 3;14(7):677-85. doi: 10.1038/ncb2502. PMID:22660413 doi:http://dx.doi.org/10.1038/ncb2502