MPV17 is a mitochondrial inner membrane protein essential for mitochondrial DNA maintenance. Mutations cause mitochondrial DNA depletion syndrome (MTDPS), typically presenting in infancy with hepatic failure and neurological symptoms.
MPV17 (MPV17 Mitochondrial Inner Membrane Protein) is a gene located on chromosome 2p23 that plays an important role in neurodegenerative disease. Mutations in MPV17 are associated with Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form. The gene is catalogued as NCBI Gene ID 4350 and OMIM 604933.
The MPV17 gene encodes a protein involved in key neuronal functions. It is expressed in Liver, Brain, Skeletal muscle, Mitochondria.
Expression data is available from the Allen Human Brain Atlas.
MPV17 mutations are linked to the following conditions:
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form