An enzyme that is necessary for the breakdown of large sugar molecules glycosaminoglycans.
Iduronate-2-sulfatase gene is mapped on chromosome Xq28 contains 9 exons with 25 amino acids that removes a chemical group sulfate from the molecule sulfated alpha-L-iduronic acid which is present as heparan sulfate and dermatan sulfate. It is mostly present in kidney, liver, lung and placenta.
Iduronate-2-sulfatase identified mutations include the complete deletion, a nonsense mutation that creates a novel splice site and 3 missense mutations. It has a strong homology sequence with aryl-sulfatases A, B and C as well as glucosamine -6-sulfatase. Individual affected by the mutation of this enzyme has early somatic abnormalities including skeletal deformities, hepatosplenomegaly and progressive cardiopulmonary deterioration.
Iduronate-2-sulfatase gene mutation implicated in mucopolysaccharidosis type II (MPS2) wherein sequence of DNA nucleotides changed more than 300 mutations either reduced or eliminates the functions. Lack of Iduronate-2-sulfatase activity resulted in the accumulation of heparan sulfate and dermatan sulfate within cells particularly inside the lysosomes that leads to increase in size of many tissues and organs thus, interfered the functions of other proteins inside the lysosomes and disrupt the movement of molecules inside the cell.
Gene name: IDS
Protein name: Iduronate 2-sulfatase
• Alpha-L-iduronate sulfate sulfatase