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Literature summary for 3.1.6.8 extracted from

  • Regis, S.; Corsolini, F.; Stroppiano, M.; Cusano, R.; Filocamo, M.
    Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity (2002), Hum. Genet., 110, 351-355.
    View publication on PubMed
Search for more literature for 3.1.6.8

Cloned(Commentary)

Cloned (Comment) Organism
transient expression experiments on COS7 cells transfected with enzyme cDNAs carrying the mutations separately and in the combination found in the patient's alleles Homo sapiens
transient expression experiments on COS7 cells transfected with enzyme cDNAs carrying the mutations separately and in the combination found in the patients alleles Homo sapiens

Protein Variants

Protein Variants Comment Organism
A96G mutation contributes to enzyme activity reduction Homo sapiens
E253K mutation contributes to enzyme activity reduction Homo sapiens
E253K/T391S mutations contribute to sum of the enzyme activity reduction ascribed to each mutation Homo sapiens
additional information study of disease-causing mutations, severe phenotype of this patient depends not only on the two disease-causing mutations, but also to some extent on the pseudodeficiency mutations Homo sapiens
N350S mutation contributes to enzyme activity reduction Homo sapiens
P426L mutation contributes to enzyme activity reduction Homo sapiens
P426L/N350S/96A>G mutations contribute to sum of the enzyme activity reduction ascribed to each mutation Homo sapiens
T391S mutation contributes to enzyme activity reduction Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
cerebroside 3-sulfate + H2O Homo sapiens the enzyme catalyzes the first step in the degradation of the glycolipid cerebroside sulfate. Accumulation of cerebroside sulfate is responsible for metachromatic leukodystrophy, a severe autosomal recessive inherited disorder. Good correlation between the type of mutation, deficient arylsulfatase A activity and disease severity is recognized cerebroside + sulfate
-
 ?
cerebroside 3-sulphate + H2O Homo sapiens the enzyme catalyzes the first step in the degradation of the glycolipid cerebroside sulfate cerebroside + sulfate
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens P15289
-
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
cerebroside 3-sulfate + H2O
-
 Homo sapiens cerebroside + sulfate
-
 ?
cerebroside 3-sulfate + H2O the enzyme catalyzes the first step in the degradation of the glycolipid cerebroside sulfate. Accumulation of cerebroside sulfate is responsible for metachromatic leukodystrophy, a severe autosomal recessive inherited disorder. Good correlation between the type of mutation, deficient arylsulfatase A activity and disease severity is recognized Homo sapiens cerebroside + sulfate
-
 ?
cerebroside 3-sulphate + H2O the enzyme catalyzes the first step in the degradation of the glycolipid cerebroside sulfate Homo sapiens cerebroside + sulfate
-
 ?

Synonyms

Synonyms Comment Organism
ARSA
-
 Homo sapiens