Reactome | EXT1:EXT2 transfers GlcA to heparan

EXT1:EXT2 transfers GlcA to heparan

Stable Identifier

R-HSA-2076392

Type

Reaction [transition]

Species

Homo sapiens

Compartment

Golgi membrane, Golgi lumen

Synonyms

Another GlcA addition extends the heparan chain

ReviewStatus

5/5

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The EXT1 subunit of the EXT1:EXT2 complex transfers a glucuronyl (GlcA) moiety from UDP-GlcA to the growing heparan chain of HSPGs. Exostosin 1 and 2 (EXT1 and 2) are dual specificity enzymes which catalyze the addition of N-acetylglucosamine (GlcNAc) and glucuronate (GlcA) to the GAG protein linker sequence. EXT1 and 2 form a heterodimer which translocates to the Golgi apparatus from the ER membrane (McCormick et al. 2000). Defects in EXT1 or 2 cause the hereditary bone disorders multiple exostoses type 1 (MIM:133700) and 2 (MIM:133701) (Wuyts et al. 1998, Bernard et al. 2001).

Literature References

PubMed ID	Title	Journal	Year
10639137	The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate McCormick, C, Duncan, G, Goutsos, KT, Tufaro, F	Proc Natl Acad Sci U S A	2000
9463333	Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses Wuyts, W, Van Hul, W, De Boulle, K, Hendrickx, J, Bakker, E, Vanhoenacker, F, Mollica, F, Lüdecke, HJ, Sayli, BS, Pazzaglia, UE, Mortier, G, Hamel, B, Conrad, EU, Matsushita, M, Raskind, WH, Willems, PJ	Am J Hum Genet	1998
11169766	Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes Bernard, MA, Hall, CE, Hogue, DA, Cole, WG, Scott, A, Snuggs, MB, Clines, GA, Lüdecke, HJ, Lovett, M, Van Winkle, WB, Hecht, JT	Cell Motil Cytoskeleton	2001