NAGLU( Human )

Entrez Gene 4669 Entrez Gene 4669
N-acetyl-alpha-glucosaminidase

Alias

CMT2V|MPS-IIIB|MPS3B|NAG|UFHSD

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. [provided by RefSeq, Jul 2008].

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