| Preferred Name |
Arylsulfatase A |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C103932 |
| code |
C103932 |
| DEFINITION |
Arylsulfatase A (507 aa, ~54 kDa) is encoded by the human ARSA gene. This protein is involved in the hydrolysis of cerebroside sulfate. |
| DesignNote |
Mutation of the SUMF1 gene results in misprocessing of arylsulfatase A and all other sulfatases leading to multiple sulfatase deficiency. (UniProt) The conversion of a cysteine residue in eukaryotes to 3-oxoalanine (also known as C-formylglycine, FGly), is critical for catalytic activity. (UniProt) |
| FULL_SYN |
ASA Cerebroside-Sulfatase EC 3.1.6.8 ARSA |
| label |
Arylsulfatase A |
| OMIM_Number |
607574 |
| Preferred_Name |
Arylsulfatase A |
| prefixIRI |
C103932 |
| prefLabel |
Arylsulfatase A |
| Semantic_Type |
Enzyme Amino Acid, Peptide, or Protein |
| Swiss_Prot |
P15289 |
| UMLS_CUI |
C0007804 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/PR_000004321 | Protein Ontology | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/607574 | Online Mendelian Inheritance in Man | LOOM |