Literature summary for 4.3.2.2 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.

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Protein Variants

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

Natural Substrates/ Products (Substrates)

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
blood plasma	-	Homo sapiens	-

Substrates and Products (Substrate)

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

Synonyms

Synonyms	Comment	Organism
ADSL	-	Homo sapiens

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Release 2023.1 (January 2023)