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Literature summary extracted from

  • Linnebank, M.; Homberger, A.; Rapp, B.; Winter, C.; Marquardt, T.; Harms, E.; Koch, H.G.
    Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene (2000), J. Inherit. Metab. Dis., 23, 308-312.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
4.3.2.1 cloning of cDNA Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
4.3.2.1 additional information the mutations E86A and R113W identified on separate alleles are most likely to determine ASL-deficiency in a severely affected patient with neonatal onset of the disease 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 (Nomega-L-arginino)succinate Homo sapiens
-
fumarate + L-arginine
-
r

Organism

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

Source Tissue

EC Number Source Tissue Comment Organism Textmining
4.3.2.1 liver
-
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
-
?
4.3.2.1 (Nomega-L-arginino)succinate
-
Homo sapiens fumarate + L-arginine
-
r

Synonyms

EC Number Synonyms Comment Organism
4.3.2.1 ASL
-
Homo sapiens