Entity Details
| Primary name |
ARSG_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q96EG1 |
| EntryName | ARSG_HUMAN |
| FullName | Arylsulfatase G |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 525 |
| SequenceStatus | complete |
| DateCreated | 2005-10-11 |
| 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 |
Diseases
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| Disease ID | Source | Name | Description |
| 618144 | OMIM | Usher syndrome 4 (USH4) | A form of Usher syndrome, a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish different types of Usher syndrome. USH4 is characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement. USH4 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction