Reviewed: Coutinho, Maria, 2012-08-27 Edited: Jassal, B, 2012-05-21 Enzyme misfolding due to missense mutations results in incorrect glycosylation therefore HGSNAT is not targeted to the lysosome and stays in the ER (Feldhammer et al. 2009). This, together with mutations giving rise to nonsense-mediated mRNA decay (Fedele & Hopwood 2010), appear to be the major molecular mechanisms underlying MPSIIIC. More than 50 mutations are known in the HGSNAT gene. Some of them drastically reduce enzyme activity; W403C/A615T double mutant (Fedele & Hopwood 2010), R344C, S518F and R384X (Fedele et al. 2007, Ruijter et al.2008). Reviewed: Matos, Liliana, 2012-08-27 Authored: Jassal, B, 2012-05-21 Reviewed: Alves, Sandra, 2012-08-27

http://purl.obolibrary.org/obo/HINO_0008287

Reviewed: Coutinho, Maria, 2012-08-27

Edited: Jassal, B, 2012-05-21

Enzyme misfolding due to missense mutations results in incorrect glycosylation therefore HGSNAT is not targeted to the lysosome and stays in the ER (Feldhammer et al. 2009). This, together with mutations giving rise to nonsense-mediated mRNA decay (Fedele & Hopwood 2010), appear to be the major molecular mechanisms underlying MPSIIIC. More than 50 mutations are known in the HGSNAT gene. Some of them drastically reduce enzyme activity; W403C/A615T double mutant (Fedele & Hopwood 2010), R344C, S518F and R384X (Fedele et al. 2007, Ruijter et al.2008).

Reviewed: Matos, Liliana, 2012-08-27

Authored: Jassal, B, 2012-05-21

Reviewed: Alves, Sandra, 2012-08-27

Pubmed17397050

Pubmed19823584

Reactome, http://www.reactome.org

Pubmed20583299

Pubmed18024218

http://purl.obolibrary.org/obo/HINO_0006924

http://purl.obolibrary.org/obo/CHEBI_15351

Defective HGSNAT does not acetylate GlcN

Defective HGSNAT does not acetylate glucosamine from HS or heparan

HINO:0008287

Defective HGSNAT does not acetylate GlcN

ReactomeREACT_147794

Reactome Database ID Release 432263492

http://purl.obolibrary.org/obo/INO_0000040