Entity Details
| Primary name |
ARSL_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | P51690 |
| EntryName | ARSL_HUMAN |
| FullName | Arylsulfatase L |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 589 |
| SequenceStatus | complete |
| DateCreated | 1996-10-01 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Golgi apparatus |
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 |
| 302950 | OMIM | Chondrodysplasia punctata 1, X-linked recessive (CDPX1) | A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. CDPX1 is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. This disease can also be induced by inhibition with the drug warfarin. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
4 interactions