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The enzyme encoded by PNPO catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Additionally we are shipping PNPO Antibodies (75) and PNPO Kits (4) and many more products for this protein.
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Exome sequencing revealed that the patient was compound heterozygous for pathogenic mutations [c.546+1G>A (IVS5+1 G>A) and c.620delG (p.G207VfsX215)] in the PNPO gene.
One sequence variant, R116Q, a single nucleotide polymorphism that has been reported in the general population, was found to have an effect on PNPO activity.
Challenge to the paradigm of exclusive PLP (show PLP1 Proteins) responsiveness in patients with pyridoxal 5'-phosphate oxidase deficiency and underlines the importance of consecutive testing of pyridoxine and PLP (show PLP1 Proteins) in neonates with antiepileptic drug-resistant seizures.
Generalized epilepsies implicates susceptibility genes: CHRM3 (show CHRM3 Proteins) at 1q43, VRK2 (show VRK2 Proteins) at 2p16.1, ZEB2 at 2q22.3, SCN1A (show SCN1A Proteins) at 2q24.3 and PNPO at 17q21.32.
provide evidence that a single arginine residue of the C terminus of pyridoxal 5'-phosphate synthase is responsible for coordinating co-operativity in this elaborate protein machinery
Results describe a combined computer and biochemical approach to characterize human pyridoxine 5'-phosphate oxidase (PNPO).
We examined 8 single nucleotide polymorphisms (SNPs) in PNPO and its 5'-flanking regions in 359 schizophrenia patients and 582 control subjects.
Sequencing of the PNPO gene revealed a novel homozygous nonsense mutationt in exon 3 in the neonatal and infantile seizure.
PNP (show NP Proteins) oxidase R229W mutation identified in patients with neonatal epileptic encephalopathy sgnificantly affect the catalytic efficiency of the enzyme.
The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy.
, pyridoxamine 5'-phosphate oxidase
, Pyridoxamine 5'-phosphate oxidase
, pyridoxal 5'-phosphate synthase
, pyridoxamine-phosphate oxidase
, pyridoxine 5'-phosphate oxidase
, pyridoxine 5-phosphate oxidase