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Literature summary for 3.1.6.8 extracted from

  • Yaghootfam, A.; Baumann, N.; Schwarz, A.; Gieselmann, V.
    Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophy (2004), Neurochem. Res., 29, 933-942.
    View publication on PubMed

Application

Application Comment Organism
medicine metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of enzyme Homo sapiens

Cloned(Commentary)

Cloned (Comment) Organism
mutation expressed from allele are examined in heterologous BHK cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
C500F about 8% reduction of enzyme activity in comparison to wild-type enzyme Homo sapiens
C500F about 8% reduction of enzyme activity in comparison to wild-type enzyme. Mutation found in a patient with metachromatic leukodystrophy Homo sapiens
E382Q complete loss of enzyme activity in comparison to wild-type enzyme in vitro Homo sapiens
E382Q complete loss of enzyme activity in comparison to wild-type enzyme in vitro. Mutation found in a patient with metachromatic leukodystrophy Homo sapiens
additional information R288H, N350S and R496H are sequence alterations found in a patient with metachromatic leukodystrophy. W124ter mutation, which leads to a truncated enzyme and the mutations E382Q and C500F are found in an other patient. Homo sapiens
additional information R288H, N350S and R496H are sequence alterations found in a patient with metachromatic leukodystrophy. W124ter mutation, which leads to a truncated enzyme and the mutations E382Q and C500F are found in an other patient Homo sapiens
N350S about 15% reduction of enzyme activity in comparison to wild-type enzyme in vitro Homo sapiens
N350S about 15% reduction of enzyme activity in comparison to wild-type enzyme in vitro, mutation found in a patient with metachromatic leukodystrophy Homo sapiens
R288H about 40% reduction of enzyme activity in comparison to wild-type enzyme in vitro Homo sapiens
R288H about 40% reduction of enzyme activity in comparison to wild-type enzyme in vitro, mutation found in a patient with metachromatic leukodystrophy Homo sapiens
R288H/R496H/N350S about 38% reduction of enzyme activity in comparison to wild-type enzyme, no additive effect of the various amino acid substitutions is found in vitro Homo sapiens
R496H about 15% reduction of enzyme activity in comparison to wild-type enzyme in vitro Homo sapiens
R496H about 15% reduction of enzyme activity in comparison to wild-type enzyme in vitro, mutation found in a patient with metachromatic leukodystrophy Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of enzyme ?
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?

Organism

Organism UniProt Comment Textmining
Homo sapiens
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Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
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Homo sapiens
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Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of enzyme Homo sapiens ?
-
?