O60597
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UniProt Related Accession #
NCBI Official Full Name
iduronate 2-sulfatase
NCBI Official Synonym Full Names
iduronate 2-sulfatase
NCBI Official Synonym Symbols
NCBI Protein Information
iduronate 2-sulfatase; idursulfase; OTTHUMP00000216437; OTTHUMP00000216438; OTTHUMP00000216439; iduronate 2-sulfatase 14 kDa chain; iduronate 2-sulfatase 42 kDa chain; alpha-L-iduronate sulfate sulfatase
UniProt Protein Name
Iduronate-2-sulfatase
UniProt Entry Name
O60597_HUMAN
NCBI Summary for IDS
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]
UniProt Comments for IDS
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; Glycan Metabolism - glycosaminoglycan degradation; Hydrolase
Chromosomal Location of Human Ortholog: Xq28
Cellular Component: lysosomal lumen
Molecular Function: metal ion binding; iduronate-2-sulfatase activity
Biological Process: chondroitin sulfate metabolic process; glycosaminoglycan catabolic process; glycosaminoglycan metabolic process; chondroitin sulfate catabolic process; carbohydrate metabolic process; pathogenesis
Disease: Mucopolysaccharidosis, Type Ii
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Pathways associated with anti-IDS antibody
Diseases associated with anti-IDS antibody
Organs/Tissues associated with anti-IDS antibody
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