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Literature summary extracted from

  • Hu, L.; Pandey, A.V.; Balmer, C.; Eggimann, S.; Ruefenacht, V.; Nuoffer, J.M.; Haeberle, J.
    Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria (2015), J. Inherit. Metab. Dis., 38, 815-827 .
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
4.3.2.1 expression of ASL constructs in human embryonic kidney 293T cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
4.3.2.1 E189G the mutant enzyme decreased enzyme efficiency (78% of wild-type), no significant decrease in Km-value, displays thermal instability Homo sapiens
4.3.2.1 I100T the mutant enzyme decreased enzyme efficiency (61% of wild-type), no significant decrease in Km-value, displays thermal instability Homo sapiens
4.3.2.1 R379C no significant decrease in Km-value, displays thermal instability Homo sapiens
4.3.2.1 R95C the mutant enzyme decreased enzyme efficiency (32% of wild-type), no significant decrease in Km-value, displays thermal instability Homo sapiens
4.3.2.1 V178M no significant reduced Km-value, displays thermal instability Homo sapiens
4.3.2.1 V335L the mutant enzyme decreased enzyme efficiency (48% of wild-type), no significant decrease in Km-value, displays thermal instability Homo sapiens

KM Value [mM]

EC Number KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
4.3.2.1 0.18
-
 2-(Nomega-L-arginino)succinate pH 7.5, 37°C, mutant enzyme R95C Homo sapiens
4.3.2.1 0.25
-
 2-(Nomega-L-arginino)succinate pH 7.5, 37°C, mutant enzyme R379C Homo sapiens
4.3.2.1 0.44
-
 2-(Nomega-L-arginino)succinate pH 7.5, 37°C, wild-type enzyme Homo sapiens
4.3.2.1 0.44
-
 2-(Nomega-L-arginino)succinate pH 7.5, 37°C, mutant enzyme V178M Homo sapiens
4.3.2.1 0.46
-
 2-(Nomega-L-arginino)succinate pH 7.5, 37°C, mutant enzyme I100T Homo sapiens
4.3.2.1 0.49
-
 2-(Nomega-L-arginino)succinate pH 7.5, 37°C, mutant enzyme E189G Homo sapiens
4.3.2.1 0.53
-
 2-(Nomega-L-arginino)succinate pH 7.5, 37°C, mutant enzyme V335L Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
4.3.2.1 2-(Nomega-L-arginino)succinate Homo sapiens as part of the urea cycle, the enzyme is essential for ammonia detoxification and L-arginine synthesis fumarate + L-arginine
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
4.3.2.1 Homo sapiens P04424
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4.3.2.1 2-(Nomega-L-arginino)succinate
-
 Homo sapiens fumarate + L-arginine
-
 ?
4.3.2.1 2-(Nomega-L-arginino)succinate as part of the urea cycle, the enzyme is essential for ammonia detoxification and L-arginine synthesis Homo sapiens fumarate + L-arginine
-
 ?

Synonyms

EC Number Synonyms Comment Organism
4.3.2.1 ASL
-
 Homo sapiens

Temperature Stability [°C]

EC Number Temperature Stability Minimum [°C] Temperature Stability Maximum [°C] Comment Organism
4.3.2.1 42.4
-
 Tm-value: mutant enzyme V335L Homo sapiens
4.3.2.1 46.5
-
 Tm-value: mutant enzyme R95C Homo sapiens
4.3.2.1 48
-
 Tm-value: mutant enzyme R379C Homo sapiens
4.3.2.1 48.1
-
 Tm-value: mutant enzyme E189G Homo sapiens
4.3.2.1 48.5
-
 Tm-value: mutant enzyme I100T Homo sapiens
4.3.2.1 49.9
-
 Tm-value: mutant enzyme V178M Homo sapiens
4.3.2.1 52.7
-
 Tm-value: wild-type enzyme Homo sapiens

General Information

EC Number General Information Comment Organism
4.3.2.1 malfunction argininosuccinate lyase deficiency (ASLD) is a rare autosomal-recessive urea cycle defect caused by mutations in the ASL gene encoding argininosuccinate lyase. ASLD has a broad clinical spectrum ranging from life-threatening severe neonatal to asymptomatic forms. Different levels of residual ASL activity probably contribute to the phenotypic variability. All ASL mutations that are identified in patients with late onset or mild clinical and biochemical courses by ASL expression in human embryonic kidney are investigated Homo sapiens
4.3.2.1 metabolism as part of the urea cycle, the enzyme is essential for ammonia detoxification and L-arginine synthesis Homo sapiens
4.3.2.1 physiological function as part of the urea cycle, the enzyme is essential for ammonia detoxification and L-arginine synthesis Homo sapiens