HGSNAT substrates Defective HGSNAT does not acetylate GlcN Authored: Jassal, B, 2012-05-21 Defective HGSNAT does not acetylate glucosamine from HS or heparan 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). Pubmed17397050 Pubmed18024218 Pubmed19823584 Pubmed20583299 Reactome Database ID Release 432263492 Reactome, http://www.reactome.org ReactomeREACT_147794 Reviewed: Alves, Sandra, 2012-08-27 Reviewed: Coutinho, Maria, 2012-08-27 Reviewed: Matos, Liliana, 2012-08-27