N-acetylglucosaminidase, alpha is a protein that in humans is encoded by the NAGLU gene.
Function This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides.
Clinical significance 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.
References
Further reading
This article incorporates text from the United States National Library of Medicine, which is in the public domain.





