Iduronate 2-Sulfatase (IDS) Antibody – Goat Polyclonal

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. Iduronate-2-sulfatase has a strong sequence similarity with human arylsulfatases A, B, and C, and human glucosamine-6-sulfatase. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq]

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: Glycan Metabolism - glycosaminoglycan degradation; Hydrolase; EC 3.1.6.13

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; chondroitin sulfate catabolic process; carbohydrate metabolic process; pathogenesis

Disease: Mucopolysaccharidosis, Type Ii