NAGLU

N-acetylglucosaminidase, alpha is a is_associated_with::protein that in humans is encoded by the NAGLU is_associated_with::gene.

Function
This gene encodes an enzyme that degrades is_associated_with::heparan sulfate by hydrolysis of terminal is_associated_with::N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides.

Clinical significance
Defects in this gene are the cause of is_associated_with::mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the is_associated_with::lysosomal accumulation and urinary excretion of heparan sulfate.