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-Acetyl-Alpha-Glucosaminidase) is a Protein Coding gene. Diseases associated with NAGLU include Charcot-Marie-Tooth Disease, Axonal, Type 2V and Mucopolysaccharidosis, Type Iiib. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include alpha-N-acetylglucosaminidase activity.
UniProtKB/Swiss-Prot for NAGLU Gene
Involved in the degradation of heparan sulfate.