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Literature summary extracted from

  • Chen, B.C.; McGown, I.N.; Thong, M.K.; Pitt, J.; Yunus, Z.M.; Khoo, T.B.; Ngu, L.H.; Duley, J.A.
    Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations (2010), J. Inherit. Metab. Dis., 33, S159-162.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
4.3.2.2 A260GfsX24 the mutation is associated with ADSL deficiency Homo sapiens
4.3.2.2 R149G the mutation is associated with ADSL deficiency Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
4.3.2.2 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide Homo sapiens
-
 5-aminoimidazole-4-carboxamide ribonucleotide + fumarate
-
 ?
4.3.2.2 succinyladenosine monophosphate Homo sapiens
-
 AMP + fumarate
-
 ?

Organism

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

Source Tissue

EC Number Source Tissue Comment Organism Textmining
4.3.2.2 blood plasma
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
4.3.2.2 5-aminoimidazole-4-(N-succinylcarboxamide) ribonucleotide
-
 Homo sapiens 5-aminoimidazole-4-carboxamide ribonucleotide + fumarate
-
 ?
4.3.2.2 succinyladenosine monophosphate
-
 Homo sapiens AMP + fumarate
-
 ?

Synonyms

EC Number Synonyms Comment Organism
4.3.2.2 ADSL
-
 Homo sapiens