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Literature summary for 4.3.2.2 extracted from

  • Camici, M.; Micheli, V.; Ipata, P.L.; Tozzi, M.G.
    Pediatric neurological syndromes and inborn errors of purine metabolism (2010), Neurochem. Int., 56, 367-378.
    View publication on PubMed
Search for more literature for 4.3.2.2

Protein Variants

Protein Variants Comment Organism
P100A/D422Y the mutation leads to a defective enzyme which is inhibited by micromolar concentrations of trans-4-hydroxy-2-nonenal 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
erythrocyte
-
 Homo sapiens
-
fibroblast
-
 Homo sapiens
-
kidney
-
 Homo sapiens
-
liver
-
 Homo sapiens
-
lymphocyte
-
 Homo sapiens
-
muscle
-
 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

General Information

General Information Comment Organism
malfunction ADSL deficiency is an autosomal recessive disorder, characterized by severe neurologic involvement including seizures, developmental delay, hypotonia, and autistic features Homo sapiens