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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.
AI596180; alpha-GlcNAcase; alpha-N-acetylglucosaminyl phosphodiesterase; APAA; lysosomal alpha-N-acetylglucosaminidase; mannose 6-phosphate-uncovering enzyme; N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase; NAGPA; Phosphodiester alpha-GlcNAcase; UCE; zgc:165534
100 µL
100 µL
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