Protein Domain : IPR027673

Type:  Family Name:  Exostosin-2
Description:  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 []. Exostosin-2 (EXT2) is a glycosyltransferase required for the biosynthesis of heparan-sulfate []. 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 []. The Golgi-localised EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone []. Short Name:  Exostosin-2
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0 Child Features

0 Contains

1 Cross References

Identifier
PTHR11062:SF6

0 Found In

3 GO Annotations

GO Term Gene Name
GO:0006024 IPR027673
GO:0015012 IPR027673
GO:0016021 IPR027673

3 Ontology Annotations

GO Term Gene Name
GO:0006024 IPR027673
GO:0015012 IPR027673
GO:0016021 IPR027673

1 Parent Features

DB identifier Type Name
IPR004263 Family Exostosin-like

0 Proteins

3 Publications

First Author Title Year Journal Volume Pages PubMed ID
            17237233
            10639137
            10545594