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Literature summary for 3.1.6.8 extracted from

  • Marcao, A.; Simonis, H.; Schestag, F.; Sa Miranda, M.C.; Gieselmann, V.
    Biochemical characterization of two (C300F, P425T) arylsulfatase a missense mutations (2003), Am. J. Med. Genet., 116A, 238-242.
No PubMed abstract available

Application

Application Comment Organism
medicine the enzyme is implicated in most cases of metachromatic leukodystrophy Homo sapiens

Protein Variants

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

Localization Comment Organism GeneOntology No. Textmining
lysosome
-
Homo sapiens 5764
-

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Subunits

Subunits Comment Organism
homodimer at neutral pH Homo sapiens
homooctamer at acidic pH Homo sapiens

Synonyms

Synonyms Comment Organism
ARSA
-
Homo sapiens