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: 5498
MIM: 600923
HGNC: 9280
Ensembl: ENSG00000143224
Variants:
dbSNP: 5498
ClinVar: 5498
TCGA: ENSG00000143224
COSMIC: PPOX
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166190681 | givosiran | Chemical | LabelAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34968794 | 2022 | Molecular characterization of a novel His333Arg variant of human protoporphyrinogen oxidase IX. | 0 |
| 34968794 | 2022 | Molecular characterization of a novel His333Arg variant of human protoporphyrinogen oxidase IX. | 0 |
| 33857841 | 2021 | The hydrogen bonding network involved Arg59 in human protoporphyrinogen IX oxidase is essential for enzyme activity. | 2 |
| 33857841 | 2021 | The hydrogen bonding network involved Arg59 in human protoporphyrinogen IX oxidase is essential for enzyme activity. | 2 |
| 32247286 | 2020 | Two new mutations in the PPOX gene in a patient with variegate porphyria. | 0 |
| 32247286 | 2020 | Two new mutations in the PPOX gene in a patient with variegate porphyria. | 0 |
| 30385147 | 2019 | Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations. | 2 |
| 30385147 | 2019 | Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations. | 2 |
| 29550908 | 2018 | An unusual diagnosis in a 31-year-old man with abdominal pain and hyponatremia. | 0 |
| 29550908 | 2018 | An unusual diagnosis in a 31-year-old man with abdominal pain and hyponatremia. | 0 |
| 27667166 | 2016 | The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1. | 2 |
| 27667166 | 2016 | The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1. | 2 |
| 25445397 | 2015 | Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias. | 8 |
| 25944804 | 2015 | Highly Expressed Genes in Rapidly Proliferating Tumor Cells as New Targets for Colorectal Cancer Treatment. | 12 |
| 25445397 | 2015 | Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias. | 8 |
Citation
Dessen P
PPOX (protoporphyrinogen oxidase)
Atlas Genet Cytogenet Oncol Haematol. 2016-01-01
Online version: http://atlasgeneticsoncology.org/gene/55572/ppox-(protoporphyrinogen-oxidase)
