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This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate.
, N-acetylglucosaminidase, alpha-
, N-acetylglucosaminidase, alpha- (Sanfilippo disease IIIB)
, alpha-N-acetylglucosaminidase, lysosomal