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Literature summary extracted from

  • Engel, K.; Vuissoz, J.; Eggimann, S.; Groux, M.; Berning, C.; Hu, L.; Klaus, V.; Moeslinger, D.; Mercimek-Mahmutoglu, S.; Stöckler, S.; Wermuth, B.; Häberle, J.; Nuoffer, J.
    Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria (2012), J. Inherit. Metab. Dis., 35, 133-140.
    View publication on PubMed

Application

EC Number Application Comment Organism
4.3.2.1 medicine expression of mutant ASL proteins in Escherichia coli. The known classical p.Q286R, the novel classical p.K315E and the known mutations p.I100T, p.E189G and p.R385C, which all have been linked to a mild phenotype of argininosuccinic aciduria, show no significant residual activity. There is some enzyme activity detected with the p.V178M (5% of wild-type), and p.R379C (10% of wild-type) mutations in which Km values for argininosuccinic acid differs significantly from the wild-type ASL protein Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
4.3.2.1 expression in Escherichia coli Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
4.3.2.1 additional information expression of mutant ASL proteins in Escherichia coli. The known classical p.Q286R, the novel classical p.K315E and the known mutations p.I100T, p.E189G and p.R385C, which all have been linked to a mild phenotype of argininosuccinic aciduria, show no significant residual activity. There is some enzyme activity detected with the p.V178M (5% of wild-type), and p.R379C (10% of wild-type) mutations in which Km values for argininosuccinic acid differs significantly from the wild-type ASL protein Homo sapiens

KM Value [mM]

EC Number KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
4.3.2.1 0.2
-
 (Nomega-L-arginino)succinate mutant c.532 G>A, pH 7.5, 37°C Homo sapiens
4.3.2.1 0.23
-
 (Nomega-L-arginino)succinate mutant c.1135 C>T, pH 7.5, 37°C Homo sapiens
4.3.2.1 2.6
-
 (Nomega-L-arginino)succinate wild-type, pH 7.5, 37°C Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
4.3.2.1 Homo sapiens
-
-
-

Specific Activity [micromol/min/mg]

EC Number Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
4.3.2.1 3
-
 mutant c.C1153T, pH 7.5, 37°C Homo sapiens
4.3.2.1 5
-
 mutant c.A943G, pH 7.5, 37°C Homo sapiens
4.3.2.1 20
-
 mutant c.T299C, pH 7.5, 37°C Homo sapiens
4.3.2.1 23
-
 mutant c.A857G, pH 7.5, 37°C Homo sapiens
4.3.2.1 41
-
 mutant c.A566G, pH 7.5, 37°C Homo sapiens
4.3.2.1 208
-
 mutant c.G532A, pH 7.5, 37°C Homo sapiens
4.3.2.1 280
-
 mutant c.C1135T, pH 7.5, 37°C Homo sapiens
4.3.2.1 4227
-
 wild-type, pH 7.5, 37°C Homo sapiens

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4.3.2.1 (Nomega-L-arginino)succinate
-
 Homo sapiens fumarate + L-arginine
-
 ?