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Literature summary for 4.3.2.1 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
Search for more literature for 4.3.2.1

Application

Application Comment Organism
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)

Cloned (Comment) Organism
expression in Escherichia coli Homo sapiens

Protein Variants

Protein Variants Comment Organism
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]

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Specific Activity [micromol/min/mg]

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

Substrates and Products (Substrate)

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