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The official name of this gene is “iduronate 2-sulfatase.”
IDS is the gene's official symbol. The IDS gene is also known by other names, listed below.
The IDS gene provides instructions for producing an enzyme called iduronate 2-sulfatase (I2S), which is essential for the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Specifically, I2S removes sulfate from a molecule known as sulfated alpha-L-iduronic acid, which is present in two GAGs called heparan sulfate and dermatan sulfate. I2S is located in lysosomes, compartments within cells that digest and recycle different types of molecules.
More than 300 mutations in the IDS gene have been found to cause mucopolysaccharidosis type II (MPS II). Mutations that change one DNA building block (nucleotide) are the most common. All mutations that cause MPS II reduce or completely eliminate the function of I2S. It usually cannot be determined whether a certain mutation will cause severe or mild MPS II; however, mutations that result in the complete absence of I2S cause the more severe form of the disorder.
Lack of I2S enzyme activity leads to the accumulation of heparan sulfate and dermatan sulfate within cells, specifically inside the lysosomes. The buildup of these GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in MPS II. Researchers believe that the accumulated GAGs may also interfere with the functions of other proteins inside the lysosomes and disrupt the movement of molecules inside the cell.
Cytogenetic Location: Xq28
Molecular Location on the X chromosome: base pairs 149,478,763 to 149,505,353
The IDS gene is located on the long (q) arm of the X chromosome at position 28.
More precisely, the IDS gene is located from base pair 149,478,763 to base pair 149,505,353 on the X chromosome.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about IDS helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
cell ; DNA ; enzyme ; gene ; heparan sulfate ; molecule ; mutation ; nucleotide ; sulfate ; syndrome
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.