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Literature summary for 3.1.6.12 extracted from

  • Garrido, E.; Cormand, B.; Hopwood, J.J.; Chabas, A.; Grinberg, D.; Vilageliu, L.
    Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene (2008), Mol. Genet. Metab., 94, 305-312.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
mutants are expressed in COS-7 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
C447F mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability Homo sapiens
G308R mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability Homo sapiens
L472P mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability Homo sapiens
L82R mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability Homo sapiens
P313A mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability Homo sapiens
S240F mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability Homo sapiens
Y138C mutant shows very low level of activity, the expressed mutation significantly reduces the amount of mature protein, the ARSB mutation has a significant effect on enzyme activity, protein processing and mRNA stability Homo sapiens

Localization

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4-nitrocatechol sulfate + H2O
-
Homo sapiens 4-nitrocatechol + sulfate
-
?
dermatan sulfate + H2O
-
Homo sapiens dermatan + sulfate
-
?

Synonyms

Synonyms Comment Organism
4-sulfatase
-
Homo sapiens
ARSB
-
Homo sapiens
arylsulfatase B
-
Homo sapiens
N-acetylgalactosamine-4-sulfatase
-
Homo sapiens