Reviewed December 2008
What is the official name of the IDS gene?
The official name of this gene is “iduronate 2-sulfatase (Hunter syndrome).”
IDS is the gene's official symbol. The IDS gene is also known by other names, listed below.
What is the normal function of the IDS gene?
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.
How are changes in the IDS gene related to health conditions?
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mucopolysaccharidosis type II - caused by mutations in the IDS gene
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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.
Where is the IDS gene located?
Cytogenetic Location: Xq28
Molecular Location on the X chromosome: base pairs 148,368,205 to 148,394,697
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 148,368,205 to base pair 148,394,697 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about IDS?
What other names do people use for the IDS gene or gene products?
- IDS_HUMAN
- iduronate-2-sulfatase
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding IDS?
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? in the Handbook.