Application | Comment | Organism |
---|---|---|
medicine | the enzyme is implicated in most cases of metachromatic leukodystrophy | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
C300F | the sequence alteration is found in a patient with metachromatic leukodystrophy, the mutant strongly interferes with the octamerization process of enzyme but not with its dimerization capacity | Homo sapiens |
P425T | the sequence alteration is found in a patient with metachromatic leukodystrophy, the mutant displays a modest reduction of oligomerization process but not with its dimerization capacity | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
lysosome | - |
Homo sapiens | 5764 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Subunits | Comment | Organism |
---|---|---|
homodimer | at neutral pH | Homo sapiens |
homooctamer | at acidic pH | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
ARSA | - |
Homo sapiens |