The MPV17 gene provides instructions for making a protein whose function is largely unknown. The MPV17 protein is located in the inner membrane of cell structures called mitochondria. Mitochondria are involved in a wide variety of cellular activities, including energy production, chemical signaling, and regulation of cell growth and division. Mitochondria contain their own DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. It is likely that the MPV17 protein is involved in the maintenance of mtDNA. Having an adequate amount of mtDNA is essential for normal energy production within cells.
Other Names
MpV17 mitochondrial inner membrane protein; MPV17, mitochondrial inner membrane protein; MPV17_HUMAN; MTDPS6; SYM1
Related Genetics Topics
- Charcot-Marie-Tooth disease — MedlinePlus Genetics
- MPV17-related hepatocerebral mitochondrial DNA depletion syndrome — MedlinePlus Genetics
Identifiers
- NCBI Gene: 4358
- OMIM: 137960
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
