| Modification Notes |
MPV17, also known as SYM1, is a 176 amino acid mitochondrial inner membrane protein that belongs to the peroxisomal membrane protein PXMP2/4 family. MPV17 is expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart. MPV17 plays an important role in regulating oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance. Mutations of MVP17 have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). MDDS is an autosomal recessive trait characterized by a reduction in mitochondrial DNA (mtDNA) copy number. MDDS may affect single organs, typically muscle or liver. Individuals with the hepatocerebral form of MDDS have early progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids. |