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Literature summary extracted from

  • Mills, P.B.; Surtees, R.A.; Champion, M.P.; Beesley, C.E.; Dalton, N.; Scambler, P.J.; Heales, S.J.; Briddon, A.; Scheimberg, I.; Hoffmann, G.F.; Zschocke, J.; Clayton, P.T.
    Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase (2005), Hum. Mol. Genet., 14, 1077-1086.
    View publication on PubMed

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.4.3.5 gene PNPO, DNA and amino acid sequence determination and analysis, expression of wild-type PNPO and mutant R229W in CHO cells Mus musculus

Protein Variants

EC Number Protein Variants Comment Organism
1.4.3.5 E50K mutant shows activity similar to the wild-type enzyme Mus musculus
1.4.3.5 additional information DNA sequence determination of PNPO homozygous missense, splice site and stop codon mutations involved in neonatal epileptic encephalopathy, phenotypes overview Mus musculus
1.4.3.5 R229W 70% reduced activity compared to the wild-type enzyme, DNA sequence determination of PNPO homozygous missense, splice site and stop codon mutations involved in neonatal epileptic encephalopathy, phenotype overview Mus musculus

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.4.3.5 additional information Mus musculus mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase cause neonatal epileptic encephalopathy ?
-
 ?
1.4.3.5 pyridoxamine 5'-phosphate + FMN + H2O + 2 H+ Mus musculus
-
 pyridoxal 5'-phosphate + FMNH2 + NH3
-
 ?
1.4.3.5 pyridoxine 5'-phosphate + FMN Mus musculus
-
 pyridoxal 5'-phosphate + FMNH2
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
1.4.3.5 Mus musculus
-
 gene PNPO
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.4.3.5 additional information mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase cause neonatal epileptic encephalopathy Mus musculus ?
-
 ?
1.4.3.5 pyridoxamine 5'-phosphate + FMN + H2O + 2 H+
-
 Mus musculus pyridoxal 5'-phosphate + FMNH2 + NH3
-
 ?
1.4.3.5 pyridoxine 5'-phosphate + FMN
-
 Mus musculus pyridoxal 5'-phosphate + FMNH2
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.4.3.5 PNPO
-
 Mus musculus
1.4.3.5 pyridox(am)ine 5'-phosphate oxidase
-
 Mus musculus

Cofactor

EC Number Cofactor Comment Organism Structure
1.4.3.5 FMN
-
 Mus musculus