InterPro domain: IPR024732

Alpha-N-acetylglucosaminidase is a lysosomal enzyme required for the stepwise degradation of heparan sulphate [ 1 ]. Mutations on the alpha-N-acetylglucosaminidase (NAGLU) gene can lead to Mucopolysaccharidosis type IIIB (MPS IIIB, or Sanfilippo syndrome type B) characterised by neurological dysfunction but relatively mild somatic manifestations [ 2 ]. The structure shows that the enzyme is composed of three domains. This C-terminal domain has an all alpha helical fold [ 3 ].

1. Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase. Proc. Natl. Acad. Sci. U.S.A. 96, 14505-10
2. Correction of mucopolysaccharidosis type IIIb fibroblasts by lentiviral vector-mediated gene transfer. Biochem. J. 364, 747-53
3. Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB. Proc. Natl. Acad. Sci. U.S.A. 105, 6560-5