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 Circadian rythm related genes and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include alpha-N-acetylglucosaminidase activity.
UniProtKB/Swiss-Prot Summary for NAGLU Gene
Involved in the degradation of heparan sulfate.