NAGLU
N-acetyl-alpha-glucosaminidase
Normal Function
Health Conditions Related to Genetic Changes
Mucopolysaccharidosis type III
At least 118 mutations in the NAGLU gene have been found to cause mucopolysaccharidosis type IIIB (MPS IIIB). Most of these mutations change single DNA building blocks (nucleotides) in the gene. All of the mutations that cause MPS IIIB reduce or eliminate the function of alpha-N-acetylglucosaminidase.
The lack of alpha-N-acetylglucosaminidase activity disrupts the breakdown of a subset of GAGs called heparan sulfate. As a result, partially broken down heparan sulfate accumulates within lysosomes. Researchers believe that the accumulation of GAGs interferes with the functions of other proteins inside the lysosomes and disrupts the normal functions of cells. It is unknown why the buildup of heparan sulfate mostly affects the central nervous system in MPS IIIB.
More About This Health ConditionRelated Conditions
Mucopolysaccharidosis type IIICharcot-Marie-Tooth disease
Health Conditions Related to Genetic Changes
At least 118 mutations in the NAGLU gene have been found to cause mucopolysaccharidosis type IIIB (MPS IIIB). Most of these mutations change single DNA building blocks (nucleotides) in the gene. All of the mutations that cause MPS IIIB reduce or eliminate the function of alpha-N-acetylglucosaminidase.
The lack of alpha-N-acetylglucosaminidase activity disrupts the breakdown of a subset of GAGs called heparan sulfate. As a result, partially broken down heparan sulfate accumulates within lysosomes. Researchers believe that the accumulation of GAGs interferes with the functions of other proteins inside the lysosomes and disrupts the normal functions of cells. It is unknown why the buildup of heparan sulfate mostly affects the central nervous system in MPS IIIB.
MedlinePlus Genetics provides information about Charcot-Marie-Tooth disease