Property Summary

NCBI Gene PubMed Count 21
Grant Count 1
R01 Count 1
Funding $55,961.33
PubMed Score 83.60
PubTator Score 50.67

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
psoriasis -1.800 0.000
osteosarcoma -1.855 0.000
primitive neuroectodermal tumor -1.100 0.004
pancreatic ductal adenocarcinoma liver m... -2.125 0.001
atypical teratoid/rhabdoid tumor -1.100 0.001
lung carcinoma 1.200 0.000
ovarian cancer 1.200 0.001

Synonym

Accession Q9NVS9 B4E0V0 B4E152 B4E1D7 D3DTT9
Symbols PDXPO
HEL-S-302

Gene

PANTHER Protein Class (2)

 Grant Application (1)

PDB

1NRG   3HY8  

Gene RIF (11)

PMID Text
26535729 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.
24658933 Challenge to the paradigm of exclusive PLP responsiveness in patients with pyridoxal 5'-phosphate oxidase deficiency and underlines the importance of consecutive testing of pyridoxine and PLP in neonates with antiepileptic drug-resistant seizures.
24645144 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.
22949513 Generalized epilepsies implicates susceptibility genes: CHRM3 at 1q43, VRK2 at 2p16.1, ZEB2 at 2q22.3, SCN1A at 2q24.3 and PNPO at 17q21.32.
21283685 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
19759001 PNP oxidase R229W mutation identified in patients with neonatal epileptic encephalopathy sgnificantly affect the catalytic efficiency of the enzyme.
18485777 Sequencing of the PNPO gene revealed a novel homozygous nonsense mutationt in exon 3 in the neonatal and infantile seizure.
17851041 Observational study of gene-disease association. (HuGE Navigator)
17851041 We examined 8 single nucleotide polymorphisms (SNPs) in PNPO and its 5'-flanking regions in 359 schizophrenia patients and 582 control subjects.
15772097 several mutations appear to cause epilepsy
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AA Sequence

MTCWLRGVTATFGRPAEWPGYLSHLCGRSAAMDLGPMRKSYRGDREAFEETHLTSLDPVKQFAAWFEEAV      1 - 70
QCPDIGEANAMCLATCTRDGKPSARMLLLKGFGKDGFRFFTNFESRKGKELDSNPFASLVFYWEPLNRQV     71 - 140
RVEGPVKKLPEEEAECYFHSRPKSSQIGAVVSHQSSVIPDREYLRKKNEELEQLYQDQEVPKPKSWGGYV    141 - 210
LYPQVMEFWQGQTNRLHDRIVFRRGLPTGDSPLGPMTHRGEEDWLYERLAP                       211 - 261
//

Text Mined References (25)

PMID Year Title
26535729 2015 Pyridoxal 5?-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report.
24658933 2014 Pyridoxine responsiveness in novel mutations of the PNPO gene.
24645144 2014 Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22949513 2012 Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
22020285 2011 Image-based genome-wide siRNA screen identifies selective autophagy factors.
21283685 2011 It takes two to tango: defining an essential second active site in pyridoxal 5'-phosphate synthase.
21269460 2011 Initial characterization of the human central proteome.
More...