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Literature summary for 1.4.3.5 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)

Cloned (Comment) Organism
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

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

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

Organism

Organism UniProt Comment Textmining
Mus musculus
-
gene PNPO
-

Substrates and Products (Substrate)

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

Synonyms

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

Cofactor

Cofactor Comment Organism Structure
FMN
-
Mus musculus