Entity Details
Primary name |
IDS_HUMAN |
Entity type |
UniProt |
Source |
Source Link |
Details
Accession | P22304 |
EntryName | IDS_HUMAN |
FullName | Iduronate 2-sulfatase |
TaxID | 9606 |
Evidence | evidence at protein level |
Length | 550 |
SequenceStatus | complete |
DateCreated | 1991-08-01 |
DateModified | 2021-06-02 |
Subcellular Location
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Subcellular Location |
Lysosome |
Domains
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Domain | Name | Category | Type |
IPR000917 | Sulfatase, N-terminal | Domain | Domain |
IPR017850 | Alkaline-phosphatase-like, core domain superfamily | Family | Homologous superfamily |
IPR024607 | Sulfatase, conserved site | Site | Conserved site |
IPR035874 | Iduronate-2-sulfatase | Family | Family |
Diseases
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Disease ID | Source | Name | Description |
309900 | OMIM | Mucopolysaccharidosis 2 (MPS2) | 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. The disease is caused by variants affecting the gene represented in this entry. |
Drugs
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Drug | Name | Source | Type |
DB09301 | Chondroitin sulfate | Drugbank | small molecule |
Interactions
3 interactions