NAGLU

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, also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate.