GNS
glucosamine (N-acetyl)-6-sulfatase
Normal Function
Health Conditions Related to Genetic Changes
Mucopolysaccharidosis type III
Mutations in the GNS gene cause mucopolysaccharidosis type IIID (MPS IIID). Most of these mutations change single DNA building blocks (nucleotides) in the gene. All of the mutations that cause MPS IIID reduce or eliminate the function of N-acetylglucosamine-6-sulfatase.
The lack of N-acetylglucosamine-6-sulfatase activity disrupts the breakdown of heparan sulfate. As a result, partially broken down GAGs accumulate 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 IIID.
More About This Health ConditionRelated Conditions
Mucopolysaccharidosis type III
Health Conditions Related to Genetic Changes
Mutations in the GNS gene cause mucopolysaccharidosis type IIID (MPS IIID). Most of these mutations change single DNA building blocks (nucleotides) in the gene. All of the mutations that cause MPS IIID reduce or eliminate the function of N-acetylglucosamine-6-sulfatase.
The lack of N-acetylglucosamine-6-sulfatase activity disrupts the breakdown of heparan sulfate. As a result, partially broken down GAGs accumulate 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 IIID.