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

Locations in the PathwayBrowser

Expand all

General

SBML | | PDF

SVG | | PPTX | SBGN

Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

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. The first addition mediated by these enzymes is that of glucuronate after EXTL1 has added the first GlcNAc unit to the linkage 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 Duncan, G, Goutsos, KT, Tufaro, F, McCormick, C	Proc Natl Acad Sci U S A	2000
9463333	Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses Lüdecke, HJ, Willems, PJ, Hamel, B, Van Hul, W, Matsushita, M, Mollica, F, Bakker, E, Mortier, G, Conrad, EU, Wuyts, W, Hendrickx, J, Sayli, BS, Vanhoenacker, F, Raskind, WH, De Boulle, K, Pazzaglia, UE	Am J Hum Genet	1998
11169766	Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes Lüdecke, HJ, Hecht, JT, Cole, WG, Clines, GA, Van Winkle, WB, Scott, A, Hogue, DA, Hall, CE, Bernard, MA, Snuggs, MB, Lovett, M	Cell Motil Cytoskeleton	2001