Recombinant protein encompassing a sequence within the center region of human NAGLU. The exact sequence is proprietary.
Alternative Names:
NAG, CMT2V, MPS3B, UFHSD, MPS-IIIB
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.
