Property Summary

NCBI Gene PubMed Count 43
Grant Count 30
R01 Count 16
Funding $3,731,794.7
PubMed Score 291.01
PubTator Score 860.47

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
pancreatic cancer 1.100 0.039
malignant mesothelioma -1.300 0.000
psoriasis -1.600 0.001
cutaneous lupus erythematosus -1.400 0.004
osteosarcoma -3.752 0.000
posterior fossa group B ependymoma 1.500 0.000
group 3 medulloblastoma 1.800 0.000
primitive neuroectodermal tumor 1.300 0.031
tuberculosis 1.400 0.000
lung cancer 1.500 0.003
pancreatic carcinoma 1.100 0.039
nasopharyngeal carcinoma -1.100 0.000

Gene RIF (18)

PMID Text
25944804 GAPDH and protoporphyrinogen oxidase were shown to have higher expression in faster growing cell lines and primary tumors. Pharmacologic inhibition of GAPDH or PPOX reduced the growth of colon cancer cells in vitro
25445397 in the hepatic cancer tissue of two acute porphyria patients, somatic second-hit mutations result in nearly complete inactivation of PPOX and HMBS
23601071 Variegate porphyria is the result of decreased protoporphyrinogen oxidase activity. Diet supplementation with vitamins E and C restores PPOX gene expression in lymphocytes of variegate porphyria patients.
23467411 VP-causing mutation affect the catalytic activity of hPPO by affecting the ability of hPPO to sample the privileged conformations
23324528 findings emphasize the usefulness of MLPA analysis as a complement to PPOX gene sequencing analysis for comprehensive genetic diagnostics in patients with variegate prophyria
21910705 data deliver further confirmation that the South African and Dutch variegate porphyria families carrying mutation p.R59W shared a common ancestor.
21048046 Forty-seven variegate porphyria-causing mutations were purified by chromatography and kinetically characterized in vitro.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19656457 The mutation 1082-1083insC(1 base pair insertion at position 1082) in exon 10 of the PPOX gene was prevalent in the Swiss population.
19656455 The c.851G>T and the c.1013C>G of PPOX gene were found in two and four unrelated families respectively. 1 experienced only photosensitivity, 1 only neurological symptoms and the 2 both clinical manifestations.
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AA Sequence

MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGAR      1 - 70
TLLLVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGK     71 - 140
EPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQ    141 - 210
PDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEAD    211 - 280
HVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDS    281 - 350
VAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIP    351 - 420
QYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS                 421 - 477
//

Text Mined References (61)

PMID Year Title
25944804 2015 Highly Expressed Genes in Rapidly Proliferating Tumor Cells as New Targets for Colorectal Cancer Treatment.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25445397 2015 Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
24073655 2013 Homozygous variegate porphyria presenting with developmental and language delay in childhood.
23601071 2013 Antioxidants restore protoporphyrinogen oxidase in variegate porphyria patients.
23467411 2013 Quantitative structural insight into human variegate porphyria disease.
23430901 2012 Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients.
23324528 2013 Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria.
21910705 2012 Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.
21269460 2011 Initial characterization of the human central proteome.
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