Defective EXT2 causes exostoses 2

Stable Identifier
R-HSA-3656237
Type
Pathway
Species
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
8558565 WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2)

McGaughran, JM, Ward, HB, Evans, DG

J. Med. Genet. 1995
2783565 Multiple hereditary osteochondromata

Peterson, HA

Clin. Orthop. Relat. Res. 1989
Participants
Participant Of
Disease
Name Identifier Synonyms
hereditary multiple exostoses 206 Osteochondromatosis syndrome (disorder) [Ambiguous], Multiple exostosis syndromes, Multiple congenital exostosis
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