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Article

The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1.

Blood cells, molecules & diseases - 1 Oct 2016

Fiorentino Valeria, Brancaleoni Valentina, Granata Francesca, Graziadei Giovanna, Di Pierro Elena

Abstract excerpt

The PPOX gene encodes for the protoporphyrinogen oxidase, which is involved in heme production. The partial deficiency of protoporphyrinogen oxidase causes variegate porphyria. The tissue-specific regulation of other heme biosynthetic enzymes is extensively studied, but the information concerning transcriptional and post-transcriptional regulation of PPOX gene expression is scarcely available. In this study, we...

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Identifiers

PMID: 27667166
DOI: 10.1016/j.bcmd.2016.08.002

Genes

PPOX

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