Cloned (Comment) | Organism |
---|---|
ARSA, DNA and amino acid sequence determination and analysis of wild-type and mutant | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
W124G | naturally occurring missense mutation causing ARSA deficiency, isolated from two Tunisian patients with late infantile metachromatic leukodystrophy, MLD | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
lysosome | - |
Homo sapiens | 5764 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
ARSA | - |
Homo sapiens |
arylsulfatase A | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | metachromatic leukodystrophy, MLD, is an autosomal recessive, lysosomal storage disease caused by a deficiency of the enzyme arylsulfatase A, ARSA | Homo sapiens |