NAGLU

NAGLU (N-acetyl-alpha-glucosaminidase) is a human gene that encodes the enzyme N-acetyl-alpha-glucosaminidase. This enzyme is involved in the degradation of heparan sulfate, a type of glycosaminoglycan found in the extracellular matrix of animal tissues. Mutations in the NAGLU gene are associated with the rare genetic disorder Sanfilippo syndrome type B.

Function

The NAGLU gene provides instructions for producing an enzyme called N-acetyl-alpha-glucosaminidase. This enzyme is found in lysosomes, which are small compartments within cells that break down and recycle different types of molecules. N-acetyl-alpha-glucosaminidase is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Specifically, it helps break down a GAG called heparan sulfate.

Clinical significance

Mutations in the NAGLU gene cause Sanfilippo syndrome type B, a subtype of mucopolysaccharidosis III. This is a progressive disorder that primarily affects the brain and spinal cord (central nervous system). People with this disorder typically do not show signs or symptoms at birth, but they begin to experience severe neurological symptoms, including progressive intellectual disability and loss of previously acquired skills, in early childhood.

Genetics

The NAGLU gene is located on the short (p) arm of chromosome 17 at position 21.3, from base pair 40,514,365 to base pair 40,528,663. It spans 14 exons and encodes a protein of 743 amino acids.

See also

• Sanfilippo syndrome
• Mucopolysaccharidosis
• Lysosomal storage disease

External links

• NAGLU at NCBI Gene
• NAGLU at Genetics Home Reference
• NAGLU at UniProt