MPV17

Protein Mpv17 is a is_associated_with::protein that in humans is encoded by the MPV17 is_associated_with::gene.

Function
This protein was first thought to be a is_associated_with::peroxisomal protein, but in 2006, Spiazzolla suggested that it is a mitochondrial inner membrane protein that is implicated in the formation of is_associated_with::reactive oxygen species (ROS).

Restoration of MPV17 expression in a MPV17-/- mice restore is_associated_with::mtDNA copy number, suggesting MPV17 is involved in mtDNA copy number, and in mtDNA maintenance.

MPV17 seems to be also involved in apoptosis in podocytes, and involved in ROS.

Clinical significance
Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS), a mutation in this protein leads to an mtDNA (mitochondrial DNA) copy number decrease.