Aliases for NAGLU Gene
External Ids for NAGLU Gene
Previous GeneCards Identifiers for NAGLU Gene
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]
GeneCards Summary for NAGLU Gene
NAGLU (N-Acetylglucosaminidase, Alpha) is a Protein Coding gene. Diseases associated with NAGLU include mucopolysaccharidosis type iiib and charcot-marie-tooth disease, axonal, type 2v. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include alpha-N-acetylglucosaminidase activity.
UniProtKB/Swiss-Prot for NAGLU Gene
Involved in the degradation of heparan sulfate