The MPV17 gene gives instructions for making a mitochondrial inner membrane protein that is involved in mitochondrial homeostasis.  The function of MPV17 is still unknown; it may be involved in the metabolism of reactive oxygen species and control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance.

Defects in this protein have been associated with MPV17-related hepatocerebral form of mitochondrial DNA depletion syndrome, characterized by severe liver failure, hypoglycemia, growth retardation, neurological symptoms, and multiple brain lesions during the first year of life.

The MPV17 gene is located on 2p23.3 chromosome; it has 7 coding exons and spans approximately 16.2 kb in the genomic DNA.  It encodes a protein of 176 amino acids.  More than 30 mutations in this gene including: missense, nonsense, splicing site mutations, and small deletion/insertions have been found to cause MPV17-related hepatocerebral mitochondrial DNA depletion syndrome.  Also, a large intragenic deletion spanning exon 8 of MPV17 has been reported.