Entity Details
| Primary name |
SPHM_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | P51688 |
| EntryName | SPHM_HUMAN |
| FullName | N-sulphoglucosamine sulphohydrolase |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 502 |
| SequenceStatus | complete |
| DateCreated | 1996-10-01 |
| 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 |
| IPR032506 | Domain of unknown function DUF4976 | Domain | Domain |
Diseases
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| Disease ID | Source | Name | Description |
| 252900 | OMIM | Mucopolysaccharidosis 3A (MPS3A) | A severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
2 interactions