Iduronate 2-sulfatase (; systematic name L-iduronate-2-sulfate 2-sulfohydrolase) is an enzyme that in humans is encoded by the IDS gene. This sulfatase enzyme is associated with Hunter syndrome. It catalyses hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin.

Function

Iduronate 2-sulfatase is required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this X-chromosome gene that result in enzymatic deficiency lead to the sex-linked mucopolysaccharidosis type II, also known as Hunter syndrome. At least 174 disease-causing mutations in this gene have been discovered. Iduronate-2-sulfatase has a strong sequence homology with human arylsulfatases A, B, and C, and human glucosamine-6-sulfatase. A splice variant of this gene has been described.

See also Idursulfase

References

Further reading

External links GeneReviews/NIH/NCBI/UW entry on Mucopolysaccharidosis Type II