{"symbol":"NAGPA","synonyms":["APAA","UCE"],"name":"N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase","description":"Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as \u0027uncovering enzyme\u0027 or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015]","ncbiEntrezGeneId":51172,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/51172","proteins":[{"symbol":"NAGPA_HUMAN","href":"/api/1.0/protein/NAGPA_HUMAN"}],"hgncRootFamilies":[]}