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Defective EXT2 causes exostoses 2
Stable Identifier
R-HSA-3656237
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosaminoglycan metabolism (Homo sapiens)
Defective EXT2 causes exostoses 2 (Homo sapiens)
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Heparan sulfate (HS) is involved in regulating various body functions during development, homeostasis and pathology including blood clotting, angiogenesis and metastasis of cancer cells. Exostosin 1 and 2 (EXT1 and 2) glycosyltransferases are required to form HS. They are able to transfer N-acetylglucosamine (GlcNAc) and glucuronate (GlcA) to HS during its synthesis. The functional form of these enzymes appears to be a complex of the two located on the Golgi membrane. Defects in either EXT1 or EXT2 can cause hereditary multiple exostoses 1 (Petersen 1989) and 2 (McGaughran et al. 1995) respectively (MIM:133700 and MIM:133701), autosomal dominant disorders characterised by multiple projections of bone capped by cartilage resulting in deformed legs, forearms and hands.
Literature References
PubMed ID
Title
Journal
Year
2783565
Multiple hereditary osteochondromata
Peterson, HA
Clin. Orthop. Relat. Res.
1989
8558565
WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2)
Evans, DG
,
McGaughran, JM
,
Ward, HB
J. Med. Genet.
1995
Participants
Events
Defective EXT2 (in EXT1:EXT2) does not transfer GlcA to heparan
(Homo sapiens)
Defective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain
(Homo sapiens)
Defective EXT2 (in EXT1:EXT2) does not transfer GlcA to heparan
(Homo sapiens)
Defective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to heparan
(Homo sapiens)
Participates
as an event of
Diseases associated with glycosaminoglycan metabolism (Homo sapiens)
Disease
Name
Identifier
Synonyms
hereditary multiple exostoses
DOID:206
Osteochondromatosis syndrome (disorder) [Ambiguous], Multiple exostosis syndromes, Multiple congenital exostosis
Cross References
BioModels Database
BIOMD0000000930
Authored
Jassal, B (2013-05-31)
Reviewed
Spillmann, D (2014-07-09)
Created
Jassal, B (2013-05-31)
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