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Literature summary for 1.4.3.5 extracted from

  • di Salvo, M.L.; Mastrangelo, M.; Nogues, I.; Tolve, M.; Paiardini, A.; Carducci, C.; Mei, D.; Montomoli, M.; Tramonti, A.; Guerrini, R.; Contestabile, R.; Leuzzi, V.
    Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5-phosphate oxidase (PNPO) (2017), Data Brief, 15, 868-875 .
    View publication on PubMedView publication on EuropePMC
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Cloned(Commentary)

Cloned (Comment) Organism
expression of mutant enzyme R118Q in Escherichia coli Homo sapiens

Protein Variants

Protein Variants Comment Organism
R118Q later onset of symptoms of severe encephalopathy (beyond the first months of life) and peculiar epileptic manifestations in patients Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9NVS9
-
-

Purification (Commentary)

Purification (Comment) Organism
recombinantly expressed mutant enzyme R118Q Homo sapiens

Synonyms

Synonyms Comment Organism
PNPO
-
 Homo sapiens
pyridoxine 5'-phosphate oxidase
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
FMN
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction enzyme (PNPO) deficiency is responsible o severe neonatal encephalopathy, responsive to pyridoxal-5'-phosphate (PLP) or pyridoxine Homo sapiens