Alpha-N-acetylglucosaminidase

Alpha-N-acetylglucosaminidase
Identifiers
EC number	3.2.1.50
CAS number	9025-42-7
Databases
IntEnz	IntEnz view
BRENDA	BRENDA entry
ExPASy	NiceZyme view
KEGG	KEGG entry
MetaCyc	metabolic pathway
PRIAM	profile
PDB structures	RCSB PDB PDBe PDBsum
Gene Ontology	AmiGO / QuickGO
Search PMC articles PubMed articles NCBI proteins

Alpha-N-acetylglucosaminidase is an enzyme that plays a crucial role in the degradation of glycoproteins and glycosaminoglycans within the lysosome. It is classified under the EC number 3.2.1.50 and is involved in the hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides.

Function

Alpha-N-acetylglucosaminidase is responsible for the breakdown of complex carbohydrates in the lysosome, a cellular organelle that digests macromolecules. This enzyme specifically cleaves the N-acetylglucosamine residues from glycoproteins and glycosaminoglycans, which are essential components of the extracellular matrix and cellular membranes.

Clinical significance

Deficiency in alpha-N-acetylglucosaminidase activity is associated with a rare genetic disorder known as Sanfilippo syndrome type B (also known as Mucopolysaccharidosis type IIIB). This condition is characterized by the accumulation of heparan sulfate, leading to progressive neurological degeneration, developmental delay, and other systemic symptoms.

Genetics

The gene encoding alpha-N-acetylglucosaminidase is located on chromosome 17q21. The gene is known as NAGLU, and mutations in this gene can lead to the aforementioned deficiency and associated clinical manifestations.

Structure

Alpha-N-acetylglucosaminidase is a lysosomal enzyme that functions optimally at acidic pH levels. The enzyme is synthesized as a precursor protein and undergoes post-translational modifications to become active within the lysosome.

Research

Research into alpha-N-acetylglucosaminidase includes studies on enzyme replacement therapy and gene therapy as potential treatments for Sanfilippo syndrome type B. Animal models and clinical trials are ongoing to evaluate the efficacy and safety of these therapeutic approaches.

Also see

• Lysosome
• Glycoprotein
• Sanfilippo syndrome
• Enzyme replacement therapy
• Gene therapy