DISEASES

Disease-gene associations mined from literature

Literature associating EXT1 and bone disease

EXT1 [ENSP00000367446]

Putative tumor suppressor protein EXT1; 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; Exostosin glycosyltransferase family

Synonyms:  EXT1,  EXT1p,  hEXT1,  D7RTA7,  F8WF54 ...

Linkouts:  STRING  Pharos  UniProt  OMIM