Iduronate 2-Sulfatase/IDS (IDS) Antibody – Mouse Monoclonal

This gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X-linked lysosomal storage disease mucopolysaccharidosis type II, also known as Hunter syndrome. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

IDS: Required for the lysosomal degradation of heparan sulfate and dermatan sulfate. Defects in IDS are the cause of mucopolysaccharidosis type 2 (MPS2); also known as Hunter syndrome. MPS2 is an X-linked lysosomal storage disease characterized by intracellular accumulation of heparan sulfate and dermatan sulfate and their excretion in urine. Most children with MPS2 have a severe form with early somatic abnormalities including skeletal deformities, hepatosplenomegaly, and progressive cardiopulmonary deterioration. A prominent feature is neurological damage that presents as developmental delay and hyperactivity but progresses to mental retardation and dementia. They die before 15 years of age, usually as a result of obstructive airway disease or cardiac failure. In contrast, those with a mild form of MPS2 may survive into adulthood, with attenuated somatic complications and often without mental retardation. Belongs to the sulfatase family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 3.1.6.13; Hydrolase; Glycan Metabolism - glycosaminoglycan degradation

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: lysosomal lumen

Molecular Function: iduronate-2-sulfatase activity; metal ion binding

Biological Process: chondroitin sulfate metabolic process; glycosaminoglycan catabolic process; glycosaminoglycan metabolic process; carbohydrate metabolic process; chondroitin sulfate catabolic process; pathogenesis

Disease: Mucopolysaccharidosis, Type Ii