Article
Molecular characterization of a novel His333Arg variant of human protoporphyrinogen oxidase IX.
Biochemical and biophysical research communications - 15 Jan 2022
Novakova Zora, Mikesova Jana, Ondrakova Marketa, Kutil Zsofia, Vesela Katerina, Martasek Pavel, Barinka Cyril
Abstract excerpt
Variegate porphyria is caused by mutations in the protoporphyrinogen oxidase IX (PPOX, EC 1.3.3.4) gene, resulting in reduced overall enzymatic activity of PPOX in human tissues. Recently, we have identified the His333Arg mutation in the PPOX protein (PPOX(H333R)) as a putative founder mutation in the Moroccan Jewish population. Herein we report the molecular characterization of PPOX(H333R) in vitro and in cells....
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