Gene:
N-acetylglucosaminidase, alpha- (Sanfilippo disease IIIB)
Gene ID:
190849
Symbol:
NAGLU
Species:
1000
Description:
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.