Aliases for NAGPA Gene
External Ids for NAGPA Gene
Previous GeneCards Identifiers for NAGPA Gene
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 'uncovering enzyme' 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]
GeneCards Summary for NAGPA Gene
NAGPA (N-Acetylglucosamine-1-Phosphodiester Alpha-N-Acetylglucosaminidase) is a Protein Coding gene. Diseases associated with NAGPA include Stuttering and Speech Disorder. Among its related pathways are Lysosome. Gene Ontology (GO) annotations related to this gene include N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity. An important paralog of this gene is TENM3.
UniProtKB/Swiss-Prot Summary for NAGPA Gene
Catalyzes the second step in the formation of the mannose 6-phosphate targeting signal on lysosomal enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P-mannose moieties, which are formed in the first step. Also hydrolyzes UDP-GlcNAc, a sugar donor for Golgi N-acetylglucosaminyltransferases.