HGSNAT
heparan-alpha-glucosaminide N-acetyltransferase
Normal Function
Health Conditions Related to Genetic Changes
Mucopolysaccharidosis type III
At least 54 mutations in the HGSNAT gene have been found to cause mucopolysaccharidosis type IIIC (MPS IIIC). Most of these mutations change single DNA building blocks (nucleotides) in the gene. All of the mutations that cause MPS IIIC reduce or eliminate the function of N-acetyltransferase.
The lack of N-acetyltransferase activity disrupts the breakdown of 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 IIIC.
More About This Health ConditionRelated Conditions
Mucopolysaccharidosis type III
Health Conditions Related to Genetic Changes
At least 54 mutations in the HGSNAT gene have been found to cause mucopolysaccharidosis type IIIC (MPS IIIC). Most of these mutations change single DNA building blocks (nucleotides) in the gene. All of the mutations that cause MPS IIIC reduce or eliminate the function of N-acetyltransferase.
The lack of N-acetyltransferase activity disrupts the breakdown of 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 IIIC.