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Literature summary for 4.3.2.1 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)

Cloned (Comment) Organism
cloning of cDNA Homo sapiens

Protein Variants

Protein Variants Comment Organism
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)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
(Nomega-L-arginino)succinate Homo sapiens
-
fumarate + L-arginine
-
r

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
liver
-
Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

Synonyms Comment Organism
ASL
-
Homo sapiens