Iduronate-2-sulfatase

n/an/an/an/anan/an/an/an/an/aIduronate 2-sulfatase (EC 3.1.6.13; systematic name L-iduronate-2-sulfate 2-sulfohydrolase) is a sulfatase enzyme associated with Hunter syndrome.

[1] It catalyses hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin.

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.

This EC 3.1 enzyme-related article is a stub.