Exostosin-2 (IPR027673)

Short name: Exostosin-2

Family relationships


There are five identiied human EXT family proteins (EXT1, EXT2, EXTL1, EXTL2 and EXTL3), which are members of the hereditary multiple exostoses family of tumour suppressors [PMID: 17237233]. Exostosin-2 (EXT2) is a glycosyltransferase required for the biosynthesis of heparan-sulfate [PMID: 10639137]. Hereditary multiple exostoses, a genetic disorder characterised by multiple cartilaginous tumours, is caused by mutations in members of the EXT gene family, EXT1 or EXT2. EXT1 and EXT2 form a hetero-oligomeric complex that leads to the accumulation of both proteins in the Golgi apparatus [PMID: 10545594]. The Golgi-localised EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone [PMID: 10639137].

GO terms

Biological Process

GO:0006024 glycosaminoglycan biosynthetic process
GO:0015012 heparan sulfate proteoglycan biosynthetic process

Molecular Function

GO:0015020 glucuronosyltransferase activity

Cellular Component

GO:0016021 integral component of membrane

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.