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MPV17

Protein MPV17 is a protein that in humans is encoded by the MPV17 gene. It is a mitochondrial inner membrane protein, which has a so far largely unknown role in mtDNA maintenance. Protein MPV17 is expressed in human pancreas, kidney, muscle, liver, lung, placenta, brain and heart. Human MPV17 is the orthologue of the mouse kidney disease gene, Mpv17. Loss of function has been shown to cause hepatocerebral mtDNA depletion syndromes (MDS) with oxidative phosphorylation failure and mtDNA depletion both in affected individuals and in Mpv17−/− mice.

Function
This protein was first thought to be a peroxisomal protein, but in 2006, Spinazzola et al. demonstrated that it is a mitochondrial inner membrane protein that is implicated in the formation of reactive oxygen species (ROS). MPV17 seems to be also involved in apoptosis in podocytes, and involved in ROS. == Structure ==
Structure
Gene The human MPV17 gene is located on chromosome 2 at p21-23, comprising eight exons encoding 176 amino acids. == Clinical significance ==
Clinical significance
Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDS), a mutation in this protein leads to an mtDNA (mitochondrial DNA) copy number decrease. Thus, MPV17 mutations can lead to recessive MDS or recessive multiple mtDNA deletion disorders. == Interactions ==
Interactions
MPV17 has been shown to interact with Prkdc protein during Adriamycin-induced nephropathy in mice. ==See also==
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