Identity
HGNC
LOCATION
17q21.32
LOCUSID
ALIAS
HEL-S-302,PDXPO
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55163
MIM: 603287
HGNC: 30260
Ensembl: ENSG00000108439
Variants:
dbSNP: 55163
ClinVar: 55163
TCGA: ENSG00000108439
COSMIC: PNPO
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37507019 | 2023 | Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain. | 0 |
| 37507019 | 2023 | Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain. | 0 |
| 32888189 | 2021 | Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency. | 16 |
| 34769443 | 2021 | Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy. | 2 |
| 32888189 | 2021 | Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency. | 16 |
| 34769443 | 2021 | Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy. | 2 |
| 32788630 | 2020 | Molecular characterization of pyridoxine 5'-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy. | 15 |
| 32788630 | 2020 | Molecular characterization of pyridoxine 5'-phosphate oxidase and its pathogenic forms associated with neonatal epileptic encephalopathy. | 15 |
| 30982780 | 2019 | Pyridoxine 5'-phosphate oxidase is correlated with human breast invasive ductal carcinoma development. | 10 |
| 30982780 | 2019 | Pyridoxine 5'-phosphate oxidase is correlated with human breast invasive ductal carcinoma development. | 10 |
| 28818555 | 2017 | Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation. | 17 |
| 29238081 | 2017 | Pyridoxine 5'-phosphate oxidase is a novel therapeutic target and regulated by the TGF-β signalling pathway in epithelial ovarian cancer. | 22 |
| 28818555 | 2017 | Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation. | 17 |
| 29238081 | 2017 | Pyridoxine 5'-phosphate oxidase is a novel therapeutic target and regulated by the TGF-β signalling pathway in epithelial ovarian cancer. | 22 |
| 26535729 | 2015 | Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report. | 6 |
Citation
Dessen P
PNPO (pyridoxamine 5-phosphate oxidase)
Atlas Genet Cytogenet Oncol Haematol. 2004-11-01
Online version: http://atlasgeneticsoncology.org/gene/42948/pnpo-(pyridoxamine-5-phosphate-oxidase)
