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NAGLU

Official Full Name
N-acetyl-alpha-glucosaminidase
Organism
Homo sapiens
GeneID
4669
Background
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]
Synonyms
NAG; CMT2V; MPS3B; UFHSD; MPS-IIIB;

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