Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary 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

Protein Variants

EC Number Protein Variants Comment Organism
4.3.2.2 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)

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 erythrocyte
-
 Homo sapiens
-
4.3.2.2 fibroblast
-
 Homo sapiens
-
4.3.2.2 kidney
-
 Homo sapiens
-
4.3.2.2 liver
-
 Homo sapiens
-
4.3.2.2 lymphocyte
-
 Homo sapiens
-
4.3.2.2 muscle
-
 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

General Information

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